ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5333-2A>G (rs397509264)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521854 SCV000618413 likely pathogenic not provided 2017-04-17 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5333-2A>G or IVS20-2A>G and consists of an A>G nucleotide substitution at the -2 position of intron 20 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 5452-2A>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. BRCA1 c.5333-2A>G has not, to our knowledge, been reported as a germline variant. However, other variants at the same splice acceptor site have been reported in association with breast and ovarian cancer (Gadzicki 2009, Kim 2012, Wappenschmidt 2012). Based on the current evidence, we consider BRCA1 c.5333-2A>G to be likely pathogenic.

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