NM_007294.4:c.287A>C

Variant names:

• chr17-43104882-T-G
• rs864622444
• NM_007294.4:c.287A>C

Variant summary

Our verdict is Likely pathogenic. The variant received 9 ACMG points: 9P and 0B. PM1 PM2 PM5 PP3 PP5_Moderate

The NM_007294.4(BRCA1):​c.287A>C​(p.Asp96Ala) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D96Y) has been classified as Uncertain significance.

• Frequency: Genomes: not found (cov: 32)
• Consequence: BRCA1 NM_007294.4 missense
• Clinical Significance: Likely pathogenic criteria provided, single submitter P:2
• Conservation: PhyloP100: 4.69
• Publications: 13 publications found

Genes affected

BRCA1 (HGNC:1100): (BRCA1 DNA repair associated) This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]

BRCA1 Gene-Disease associations (from GenCC):

• breast-ovarian cancer, familial, susceptibility to, 1

  Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Ambry Genetics, ClinGen, Labcorp Genetics (formerly Invitae), Genomics England PanelApp
• Fanconi anemia, complementation group S

  Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE, LIMITED Submitted by: G2P, Labcorp Genetics (formerly Invitae), ClinGen, Ambry Genetics
• pancreatic cancer, susceptibility to, 4

  Inheritance: AD Classification: MODERATE Submitted by: Genomics England PanelApp
• hereditary breast ovarian cancer syndrome

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• Fanconi anemia

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Likely_pathogenic. The variant received 9 ACMG points.

• PM1: In a hotspot region, there are 3 aminoacids with missense pathogenic changes in the window of +-8 aminoacids around while only 13 benign, 72 uncertain in NM_007294.4
• PM2: Very rare variant in population databases, with high coverage
• PM5: Other missense variant is known to change same aminoacid residue: Variant chr17-43104883-C-G is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 462596.
• PP3: MetaRNN computational evidence supports a deleterious effect, 0.804
• PP5: Variant 17-43104882-T-G is Pathogenic according to our data. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104882-T-G is described in CliVar as Likely_pathogenic. Clinvar id is 868826.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA1	NM_007294.4	c.287A>C	p.Asp96Ala	missense_variant	Exon 5 of 23	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.287A>C	p.Asp96Ala	missense_variant	Exon 5 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 32

ClinVar

Significance: Likely pathogenic

Submissions summary: Pathogenic:2

Revision: criteria provided, single submitter

Submissions by phenotype

Breast-ovarian cancer, familial, susceptibility to, 1 Pathogenic:2

Jun 12, 2023

Myriad Genetics, Inc.

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 30209399, 35659930]. This variant is expected to disrupt protein structure [Myriad internal data]. -

May 24, 2021

Molecular Oncology, Hospital Universitario Central de Asturias (HUCA)

Significance: Likely pathogenic

Review Status: no assertion criteria provided

Collection Method: case-control

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Pathogenic	0.93
BayesDel_addAF	Pathogenic	0.51	D
BayesDel_noAF	Pathogenic	0.49
CADD	Uncertain	24
DANN	Uncertain	1.0
DEOGEN2	Benign	0.34	.;T;.;.;.;.;.;T;.;T;.;T;T;.;T;T;.;.
Eigen	Uncertain	0.35
Eigen_PC	Uncertain	0.40
FATHMM_MKL	Pathogenic	0.99	D
LIST_S2	Uncertain	0.94	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D
M_CAP	Pathogenic	0.53	D
MetaRNN	Pathogenic	0.80	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D
MetaSVM	Benign	-0.43	T
MutationAssessor	Uncertain	2.5	M;M;M;M;.;M;.;.;.;.;.;.;.;.;.;.;.;.
PhyloP100		4.7
PrimateAI	Uncertain	0.63	T
PROVEAN	Benign	-1.6	N;N;N;D;N;N;N;D;N;D;N;.;N;N;N;D;D;.
REVEL	Pathogenic	0.83
Sift	Pathogenic	0.0	D;D;D;D;D;D;D;D;D;D;D;.;D;D;D;D;D;.
Sift4G	Benign	0.075	T;D;D;D;D;D;.;.;D;.;D;.;D;.;D;.;.;.
Polyphen		0.47, 1.0, 1.0	.;P;.;.;.;D;.;.;.;.;D;.;.;.;.;.;.;.
Vest4		0.86
MutPred		0.53		Gain of loop (P = 0.1069);Gain of loop (P = 0.1069);Gain of loop (P = 0.1069);Gain of loop (P = 0.1069);.;Gain of loop (P = 0.1069);.;Gain of loop (P = 0.1069);.;.;Gain of loop (P = 0.1069);Gain of loop (P = 0.1069);Gain of loop (P = 0.1069);.;Gain of loop (P = 0.1069);Gain of loop (P = 0.1069);.;.;
MVP		0.96
MPC		0.44
ClinPred		0.98	D
GERP RS		5.3
PromoterAI		0.014	Neutral
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.7
Varity_R		0.73
gMVP		0.70

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.020		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs864622444; hg19: chr17-41256899;