ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8504C>A (p.Ser2835Ter) (rs80359102)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113951 SCV000301284 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113951 SCV000327912 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509923 SCV000608013 pathogenic Hereditary cancer-predisposing syndrome 2017-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000509923 SCV000689131 pathogenic Hereditary cancer-predisposing syndrome 2017-09-01 criteria provided, single submitter clinical testing
Counsyl RCV000113951 SCV000785303 pathogenic Breast-ovarian cancer, familial 2 2017-07-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779936 SCV000916877 pathogenic Hereditary breast and ovarian cancer syndrome 2018-06-04 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8504C>A (p.Ser2835X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 276878 control chromosomes (gnomAD). The variant, c.8504C>A, has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer, predominantly in Japanese individuals (Ikeda_2001, Inoue_1997). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985605 SCV001133939 pathogenic not provided 2019-08-06 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113951 SCV000147387 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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