ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8755-1G>C (rs81002812)

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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 RCV000510081 SCV000607957 likely pathogenic Hereditary cancer-predisposing syndrome 2018-01-15 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
Counsyl RCV000576379 SCV000677879 likely pathogenic Breast-ovarian cancer, familial 2 2017-02-21 criteria provided, single submitter clinical testing
GeneDx RCV000485251 SCV000564799 likely pathogenic not provided 2017-02-09 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8755-1G>C or IVS21-1G>C and consists of a G>C nucleotide substitution at the -1 position of intron 21 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 8983-1G>C. This variant destroys a canonical splice acceptor 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 not, to our knowledge, been published in the literature. Based on the currently available information, we consider BRCA2 c.8755-1G>C to be a likely pathogenic variant.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000485251 SCV000600821 likely pathogenic not provided 2016-09-02 criteria provided, single submitter clinical testing

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