ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8331+1G>A (rs81002837)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212272 SCV000210469 pathogenic not provided 2018-07-26 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 IVS18+1G>A or c.8331+1G>A and consists of a G>A nucleotide substitution at the +1 position of intron 18 of the BRCA2 gene. The 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 observed in men and women with breast cancer (Zhang 2012, Pritzlaff 2017). Based on the current evidence, we consider this variant to be pathogenic.
Ambry Genetics RCV000166511 SCV000217311 likely pathogenic Hereditary cancer-predisposing syndrome 2014-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Other strong data supporting pathogenic classification,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031737 SCV000327867 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031737 SCV000054344 pathogenic Breast-ovarian cancer, familial 2 2013-01-07 no assertion criteria provided clinical testing

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