ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.516+1G>C (rs397507762)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258169 SCV000327148 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509726 SCV000607866 pathogenic Hereditary cancer-predisposing syndrome 2017-03-29 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,Well-characterized mutation at same position
GeneDx RCV000523730 SCV000617462 pathogenic not provided 2016-04-15 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.516+1G>C or IVS6+1G>C and consists of a G>C nucleotide substitution at the +1 position of intron 6 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 744+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 been reported in a family with hereditary breast cancer (Capalbo 2006). Based on the currently available information, we consider BRCA2 c.516+1G>C to be pathogenic.

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