ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4987-2A>G (rs397509212)

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Total submissions: 5
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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) RCV000258325 SCV001161631 pathogenic Breast-ovarian cancer, familial 1 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.998471
GeneDx RCV000212189 SCV000210191 pathogenic not provided 2014-07-29 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.4987-2A>G or IVS15-2A>G and consists of an A>G nucleotide substitution at the -2 position of intron 15 of the BRCA1 gene. The variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. BRCA1 c.4987-2A>G, previously reported as c.5106-2A>G, has been has been reported in association with hereditary breast and ovarian cancer (Meyer 2003, Thomassen 2012). The variant was predicted by Thomassen et al. (2012) to be pathogenic based on frequency information, multifactorial analysis and splicing results indicative of exon skipping and protein truncation. Based on the current evidence, we consider BRCA1 c.4987-2A>G to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258325 SCV000326096 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000212189 SCV000591558 uncertain significance not provided no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000258325 SCV001238409 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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