ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7007+1G>T (rs397507891)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482364 SCV000568479 pathogenic not provided 2016-10-03 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7007+1G>T or IVS13+1G>T and consists of a G>T nucleotide substitution at the +1 position of intron 13 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 7235+1G>T. 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 been reported in at least one individual with familial breast cancer including a history of male breast cancer (Meindl 2002). Based on the current evidence, we consider this variant to be pathogenic.

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