ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.81-2A>G (rs397509326)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482689 SCV000568439 likely pathogenic not provided 2016-08-30 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.81-2A>G or IVS2-2A>G and consists of an A>G nucleotide substitution at the -2 position of intron 2 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 200-2A>G. This 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. This variant has been reported in at least one individual with a personal and/or family history of breast and/or ovarian cancer (Caux-Moncoutier 2011). Based on the currently available information, we consider BRCA1 c.81-2A>G to be a likely pathogenic variant.
Color RCV000772128 SCV000905210 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-29 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000238783 SCV000297624 pathogenic Breast-ovarian cancer, familial 1 2013-03-08 no assertion criteria provided clinical testing

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