ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.631+1G>C (rs81002897)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485170 SCV000572330 pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.631+1G>C or IVS7+1G>C and consists of a G>C nucleotide substitution at the +1 position of intron 7 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 859+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. Based on the current evidence, we consider this variant to be pathogenic.

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