ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1447G>C (p.Ala483Pro) (rs80358432)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132314 SCV000187400 likely benign Hereditary cancer-predisposing syndrome 2017-07-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),In silico models in agreement (benign)
GeneDx RCV000417931 SCV000516128 likely benign not specified 2016-09-20 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 RCV000586041 SCV000694538 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing Variant summary: The variant c.1447G>C affects a non-conserved nucleotide, resulting in amino acid change from Ala to Pro. 2/5 in-silico tools predict this variant to be benign. This variant was not found in approximately 120546 control chromosomes from the large and broad populations of ExAC. The variant is reported in one breast cancer patient in literature without strong evidence for causality. The variant has been reported to co-occur with a deleterious variant BRCA2 p.Trp2990Ter in one sample, strongly suggesting for a benign outcome. The variant has not been evaluated for functional impact by in vivo/vitro studies. While one lab has classified this variant as likely benign, other two have classified it as having uncertain significance. Based on the currently available information, this variant has been classified as VUS-possibly benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112923 SCV000145873 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112923 SCV000189295 uncertain significance Breast-ovarian cancer, familial 2 2010-01-21 no assertion criteria provided clinical testing

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