ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7976+1G>A (rs81002873)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131083 SCV000186013 pathogenic Hereditary cancer-predisposing syndrome 2018-01-26 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,Functionally-validated splicing mutation
Breast Cancer Information Core (BIC) (BRCA2) RCV000077419 SCV000147233 pathogenic Breast-ovarian cancer, familial 2 2013-02-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077419 SCV000327775 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000235799 SCV000293485 pathogenic not provided 2019-01-16 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7976+1G>A or IVS17+1G>A and consists of a G>A nucleotide substitution at the +1 position of intron 17 of the BRCA2 gene. 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 an individual with breast or ovarian cancer (Palma 2008). Based on the current evidence, we consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077419 SCV000109217 pathogenic Breast-ovarian cancer, familial 2 2010-11-19 no assertion criteria provided clinical testing

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