ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2940T>C (p.Asp980=) (rs1555282961)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573210 SCV000668583 likely benign Hereditary cancer-predisposing syndrome 2015-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000589992 SCV000694649 uncertain significance not provided 2016-09-26 criteria provided, single submitter clinical testing Variant summary: Variant c.2940T>C (p.Asp980=) affects a non-conserved nucleotide and results in a synonymous change. Mutation taster predicts the change is a polymorphism, and 5/5 Alamut algorithms predict no significant change to splicing. The variant is absent from the large and broad cohorts of the NHLBI-ES and ExAC projects. It was reported in an HBOC family (Konecny et al, 2011) however, without strong evidence for causality. In vivo/vitro studies to describe the functional impact of the variant have not been published at the time of evaluation. Based on the synonymous nature of the variant, it is classified as VUS-Possibly Benign until more information becomes available.
Invitae RCV000637989 SCV000759469 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-03 criteria provided, single submitter clinical testing

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