ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 RCV000501817 SCV000591558 likely pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing

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