ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4097-2A>C (rs80358019)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159986 SCV000210165 pathogenic not provided 2014-04-11 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.4097-2A>C or IVS10-2A>C and consists of an A>C nucleotide substitution at the -2 position of intron 10 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. Although this variant has not, to our knowledge, been published in the literature it is considered pathogenic.

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