ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.90T>C (p.Asn30=) (rs760655471)

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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 RCV000163143 SCV000213660 likely benign Hereditary cancer-predisposing syndrome 2014-12-03 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495762 SCV000578852 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 RCV000427494 SCV000518439 likely benign not specified 2018-01-08 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 RCV000588228 SCV000695209 uncertain significance not provided 2016-04-11 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.90T>C variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a damaging outcome for this variant, and 4/5 Alamut algorithms predict no significant change to splicing. This variant was found in 1/120054 control chromosomes at a frequency of 0.0000083, which does not exceed maximal expected frequency of a pathogenic BRCA2 allele (0.0007503). In addition, one clinical laboratory classified this variant as likely benign without evidence to independently evaluate. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as a VUS-possibly benign.
Invitae RCV000459050 SCV000560404 likely benign Hereditary breast and ovarian cancer syndrome 2017-05-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000427494 SCV000600841 likely benign not specified 2016-08-19 criteria provided, single submitter clinical testing

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