ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5880T>C (p.Cys1960=) (rs368055906)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165789 SCV000216534 likely benign Hereditary cancer-predisposing syndrome 2014-09-03 criteria provided, single submitter clinical testing
Color RCV000165789 SCV000683738 likely benign Hereditary cancer-predisposing syndrome 2017-03-27 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000440214 SCV000592011 likely benign not specified 2014-06-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495244 SCV000578868 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 RCV000440214 SCV000527311 likely benign not specified 2017-12-22 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 RCV000587671 SCV000694911 uncertain significance not provided 2016-04-01 criteria provided, single submitter clinical testing Variant summary: This c.5880T>C variant affects a non-conserved nucleotide, resulting in synonymous amino acid change. One in-silico tool (MutationTaster) predicts benign outcome. 5/5 in silico programs via Alamut predict that this variant does not affect normal splicing. This variant was found in 2/120976 control chromosomes from the large and broad populations of ExAC at a frequency of 0.0000165, which does not exceed the maximal expected frequency of a pathogenic allele (0.0007503) in this gene. However, it could still represent as a rare polymorphism. This variant has been reported in two individuals by UMD, one of them carrying another deleterious variant BRCA1 c.3627dup (p.Glu1210ArgfsX9), strongly suggesting for benign outcome. One clinical lab has classified this variant as likely benign. Taken together, this variant has currently been classified as VUS-Possibly Benign.
Invitae RCV000465978 SCV000560379 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-15 criteria provided, single submitter clinical testing

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