ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563773 SCV000668564 pathogenic Hereditary cancer-predisposing syndrome 2018-03-21 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
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258397 SCV000327147 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000478432 SCV000567814 pathogenic not provided 2017-05-09 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.516+1G>A or IVS6+1G>A and consists of a G>A 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>A. 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 reported in several breast and/or ovarian cancer patients of Belgian decent and has been shown, via RT-PCR, to result in three out-of-frame transcripts, all resulting in a premature stop codon (Claes 2003, Claes 2004, Machackova 2008). We consider this variant to be pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000586303 SCV000694833 pathogenic Hereditary breast and ovarian cancer syndrome 2016-01-29 criteria provided, single submitter clinical testing

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