rs878854940

Variant summary

Our verdict is Pathogenic. The variant received 18 ACMG points: 18P and 0B. PVS1PM2PP5_Very_Strong

The NM_007294.4(BRCA1):​c.2912_2913delAT​(p.His971ArgfsTer20) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,832 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (★★★). Synonymous variant affecting the same amino acid position (i.e. H971H) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.

Frequency

Genomes: not found (cov: 32)
Exomes 𝑓: 6.8e-7 ( 0 hom. )

Consequence

BRCA1
NM_007294.4 frameshift

Scores

Not classified

Clinical Significance

Pathogenic reviewed by expert panel P:5

Conservation

PhyloP100: 0.810

Publications

1 publications found
Variant links:
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

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ACMG classification

Classification was made for transcript

Our verdict: Pathogenic. The variant received 18 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 17-43092617-CAT-C is Pathogenic according to our data. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43092617-CAT-C is described in CliVar as Pathogenic. Clinvar id is 240783.Status of the report is reviewed_by_expert_panel, 3 stars.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
BRCA1NM_007294.4 linkc.2912_2913delAT p.His971ArgfsTer20 frameshift_variant Exon 10 of 23 ENST00000357654.9 NP_009225.1 P38398-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
BRCA1ENST00000357654.9 linkc.2912_2913delAT p.His971ArgfsTer20 frameshift_variant Exon 10 of 23 1 NM_007294.4 ENSP00000350283.3 P38398-1

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
AF:
6.84e-7
AC:
1
AN:
1461832
Hom.:
0
AF XY:
0.00000138
AC XY:
1
AN XY:
727212
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
33480
American (AMR)
AF:
0.00
AC:
0
AN:
44722
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
26132
East Asian (EAS)
AF:
0.00
AC:
0
AN:
39686
South Asian (SAS)
AF:
0.00
AC:
0
AN:
86254
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
53408
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
5768
European-Non Finnish (NFE)
AF:
8.99e-7
AC:
1
AN:
1111988
Other (OTH)
AF:
0.00
AC:
0
AN:
60394
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.475
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome
Cov.:
32

ClinVar

Significance: Pathogenic
Submissions summary: Pathogenic:5
Revision: reviewed by expert panel
LINK: link

Submissions by phenotype

Breast-ovarian cancer, familial, susceptibility to, 1 Pathogenic:2
Dec 15, 2017
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. -

Jan 30, 2023
Baylor Genetics
Significance:Likely pathogenic
Review Status:criteria provided, single submitter
Collection Method:clinical testing

- -

not provided Pathogenic:1
Jun 06, 2016
GeneDx
Significance:Pathogenic
Review Status:criteria provided, single submitter
Collection Method:clinical testing

This deletion of 2 nucleotides in BRCA1 is denoted c.2912_2913delAT at the cDNA level and p.His971ArgfsX20 (H971RfsX20) at the protein level. The normal sequence, with the bases that are deleted in braces, is AAAC[AT]GGAC. The deletion causes a frameshift which changes a Histidine to an Arginine at codon 971, and creates a premature stop codon at position 20 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic. -

Hereditary cancer-predisposing syndrome Pathogenic:1
Nov 21, 2022
Ambry Genetics
Significance:Pathogenic
Review Status:criteria provided, single submitter
Collection Method:clinical testing

The c.2912_2913delAT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 2912 to 2913, causing a translational frameshift with a predicted alternate stop codon (p.H971Rfs*20). 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. -

Hereditary breast ovarian cancer syndrome Pathogenic:1
May 15, 2024
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.His971Argfs*20) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 240783). For these reasons, this variant has been classified as Pathogenic. -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.81
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

Publications

Other links and lift over

dbSNP: rs878854940; hg19: chr17-41244634; API