ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1059A>G (p.Ser353=) (rs730881585)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495285 SCV000578688 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 RCV000160201 SCV000210555 benign not specified 2014-09-15 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.
Ambry Genetics RCV000163634 SCV000214202 likely benign Hereditary cancer-predisposing syndrome 2014-10-02 criteria provided, single submitter clinical testing
Invitae RCV000200380 SCV000252994 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586522 SCV000694504 uncertain significance not provided 2016-04-14 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1059A>G variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a benign outcome for this variant, 4/5 Alamut algorithms predict no significant change to splicing, while ESEfinder predicts the creation of a SRp40 binding motif. However, this variant has not been evaluated for functional impact by in vivo/vitro studies. c.1059A>G was found in 1/120458 control chromosomes at a frequency of 0.0000083, which does not exceed maximal expected frequency of a pathogenic BRCA2 allele (0.0007503). In addition, multiple clinical laboratories classified this variant as likely benign/benign without providing evidence to independently evaluate via ClinVar. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories.. Taken together, this variant was classified as a VUS-possibly benign until additional information is available.
Color RCV000163634 SCV000910972 likely benign Hereditary cancer-predisposing syndrome 2017-12-05 criteria provided, single submitter clinical testing

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