rs398122661

Variant names:

• chr17-43104919-C-A
• rs398122661
• NM_007294.4:c.250G>T

Your query was ambiguous. Multiple possible variants found:

• chr17-43104919-C-A
• chr17-43104919-C-G
• chr17-43104919-C-T

Variant summary

Our verdict is Pathogenic. The variant received 19 ACMG points: 19P and 0B. PVS1 PM2 PP3 PP5_Very_Strong

The NM_007294.4(BRCA1):​c.250G>T​(p.Glu84*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. 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 Pathogenic (★★★). Synonymous variant affecting the same amino acid position (i.e. E84E) 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 reviewed by expert panel P:7
• Conservation: PhyloP100: 3.11
• Publications: 20 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 19 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
• PP3: Splicing predictors support a deleterious effect. Scorers claiming Pathogenic: max_spliceai. No scorers claiming Uncertain. No scorers claiming Benign.
• PP5: Variant 17-43104919-C-A is Pathogenic according to our data. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43104919-C-A is described in CliVar as Pathogenic. Clinvar id is 91591.Status of the report is reviewed_by_expert_panel, 3 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA1	NM_007294.4	c.250G>T	p.Glu84*	stop_gained	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.250G>T	p.Glu84*	stop_gained	Exon 5 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 0

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:7

Revision: reviewed by expert panel

Submissions by phenotype

Breast-ovarian cancer, familial, susceptibility to, 1 Pathogenic:4

Sep 08, 2016

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

Significance: Pathogenic

Review Status: reviewed by expert panel

Collection Method: curation

Variant allele predicted to encode a truncated non-functional protein. -

Oct 02, 2015

Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Feb 06, 2015

Counsyl

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: literature only

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. -

Jul 23, 2008

Sharing Clinical Reports Project (SCRP)

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

Hereditary cancer-predisposing syndrome Pathogenic:2

Aug 11, 2021

Ambry Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The p.E84* pathogenic mutation (also known as c.250G>T), located in coding exon 4 of the BRCA1 gene, results from a G to T substitution at nucleotide position 250. This changes the amino acid from a glutamic acid to a stop codon within coding exon 4. This alteration was detected in an individual diagnosed with triple negative breast cancer at age 34 (Rummel S et al. Breast Cancer Res. Treat., 2013 Jan;137:119-25), and in a cohort of epithelial ovarian cancer patients (Cardoso FC et al. Hum Genomics, 2018 08;12:39). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. -

Feb 07, 2023

Color Diagnostics, LLC DBA Color Health

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant changes 1 nucleotide in exon 5 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. A functional study has reported that this variant impacts BRCA1 function in a haploid human cell proliferation assay (PMID: 30209399). This variant has been observed in three individuals affected with breast or ovarian cancer (PMID: 23192404, 30103829; Color internal data). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. -

Hereditary breast ovarian cancer syndrome Pathogenic:1

Oct 11, 2021

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This sequence change creates a premature translational stop signal (p.Glu84*) 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). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with BRCA1-related cancers (PMID: 23192404, 30103829). ClinVar contains an entry for this variant (Variation ID: 91591). For these reasons, this variant has been classified as Pathogenic. -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_addAF	Pathogenic	0.61	D
BayesDel_noAF	Pathogenic	0.63
CADD	Pathogenic	36
DANN	Uncertain	1.0
Eigen	Pathogenic	1.0
Eigen_PC	Pathogenic	0.89
FATHMM_MKL	Pathogenic	0.98	D
PhyloP100		3.1
Vest4		0.88
GERP RS		5.3
PromoterAI		0.017	Neutral
Mutation Taster		=0/200	disease causing (ClinVar)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.67		Details are displayed if max score is > 0.2
DS_AL_spliceai		0.67		Position offset: 37

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

Other links and lift over

dbSNP: rs398122661; hg19: chr17-41256936; COSMIC: COSV107367438;