rs878854946

Variant names:

• chr17-43104235-T-A
• rs878854946
• NM_007294.4:c.328A>T

Your query was ambiguous. Multiple possible variants found:

• chr17-43104235-T-A
• chr17-43104235-T-C

Variant summary

Our verdict is Pathogenic. The variant received 12 ACMG points: 12P and 0B. PVS1 PM2 PP5_Moderate

The NM_007294.4(BRCA1):​c.328A>T​(p.Lys110*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (★). Synonymous variant affecting the same amino acid position (i.e. K110K) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.

• Frequency: Genomes: not found (cov: 32)
• Consequence: BRCA1 NM_007294.4 stop_gained
• Clinical Significance: Pathogenic criteria provided, single submitter P:1
• Conservation: PhyloP100: 0.840
• Publications: 11 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: Pathogenic. The variant received 12 ACMG points.

• PVS1: Loss of function variant, product undergoes nonsense mediated mRNA decay. LoF is a known mechanism of disease.
• PM2: Very rare variant in population databases, with high coverage
• PP5: Variant 17-43104235-T-A is Pathogenic according to our data. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43104235-T-A is described in CliVar as Pathogenic. Clinvar id is 963052.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.328A>T	p.Lys110*	stop_gained	Exon 6 of 23	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.328A>T	p.Lys110*	stop_gained	Exon 6 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 33

GnomAD4 genome Cov.: 32

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:1

Revision: criteria provided, single submitter

Submissions by phenotype

Hereditary breast ovarian cancer syndrome Pathogenic:1

Aug 21, 2022

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 963052). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys110*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_addAF	Pathogenic	0.56	D
BayesDel_noAF	Pathogenic	0.57
CADD	Pathogenic	36
DANN	Uncertain	0.99
Eigen	Pathogenic	0.70
Eigen_PC	Uncertain	0.56
FATHMM_MKL	Benign	0.72	D
PhyloP100		0.84
Vest4		0.89
ClinPred		0.88	D
GERP RS		4.2
Mutation Taster		=0/200	disease causing (ClinVar)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		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: rs878854946; hg19: chr17-41256252;