ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.517-11T>C (rs81002828)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113727 SCV000147046 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000581101 SCV000683681 likely benign Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing
Counsyl RCV000113727 SCV000488972 uncertain significance Breast-ovarian cancer, familial 2 2016-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000613248 SCV000713879 likely benign not specified 2018-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000589738 SCV000694835 uncertain significance not provided 2016-04-18 criteria provided, single submitter clinical testing Variant summary: The c.517-11T>C variant affects a non-conserved intronic nucleotide. Mutation taster predicts benign outcome for this variant. 4/5 programs in Alamut predict no significant effect on RNA splicing sites. However, these predictions are not confirmed by experimental studies. This variant is found in 4/119782 control chromosomes in ExAC at a frequency of 0.0000334, which does not exceed maximal expected frequency of a pathogenic allele (0.0007503). This variant has been reported in one BC/OC patient without strong evidence for causality. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000044585 SCV000072598 likely benign Hereditary breast and ovarian cancer syndrome 2017-04-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113727 SCV000297534 benign Breast-ovarian cancer, familial 2 2012-08-16 no assertion criteria provided clinical testing

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