ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7617+1G>C (rs397507922)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235926 SCV000293723 pathogenic not provided 2015-12-16 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7617+1G>C or IVS15+1G>C and consists of a G>C nucleotide substitution at the +1 position of intron 15 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 7845+1G>C. This variant destroys a canonical splice donor 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 not, to our knowledge, been published in the literature. However, c.7617+1G>A and c.7617+1G>T have both been observed in individuals with familial breast and ovarian cancer and found to cause exon 15 skipping when functionally interrogated (van der Hout 2006, Thomassen 2011, Houdayer 2012, de Garibay 2014). Based on the current evidence, we consider BRCA2 c.7617+1G>C to be pathogenic.

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