ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4830G>T (p.Val1610=) (rs80359789)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166534 SCV000217335 likely benign Hereditary cancer-predisposing syndrome 2014-10-17 criteria provided, single submitter clinical testing
Color RCV000166534 SCV000683655 likely benign Hereditary cancer-predisposing syndrome 2017-05-10 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495403 SCV000578522 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02;
GeneDx RCV000445062 SCV000512364 likely benign not specified 2017-09-22 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 RCV000589569 SCV000694806 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing Variant summary: Variant summary: The variant of interest involves the alteration of a non-conserved nucleotide and results in a synonymous change. Mutation taster predicts a neutral outcome for this change and in silico tools via Alamut predict no significant impact on splice donor and acceptor sites. The variant is absent in the large and broad cohorts of the ExAC project; it was not reported in HBOC spectrum patients either and in vivo/vitro studies to describe the functional impact of the variant were not reported in the literature at the time of scoring. A clinical diagnostic laboratory classifies variant as Likely Benign via ClinVar without evidence to independently evaluate. Considering all evidence, the variant was classified as a VUS-Possibly Benign.
Invitae RCV000526029 SCV000635408 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-13 criteria provided, single submitter clinical testing

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