ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7491G>A (p.Lys2497=) (rs786203092)

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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) RCV000495070 SCV000578939 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; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000166244 SCV000217024 likely benign Hereditary cancer-predisposing syndrome 2014-10-09 criteria provided, single submitter clinical testing
Invitae RCV000203700 SCV000261600 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-22 criteria provided, single submitter clinical testing
Color RCV000166244 SCV000689051 likely benign Hereditary cancer-predisposing syndrome 2017-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000602218 SCV000717766 likely benign not specified 2017-03-31 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 RCV000602218 SCV000916928 uncertain significance not specified 2017-11-24 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7491G>A (p.Lys2497Lys) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may not affect binding of ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 246202 control chromosomes (gnomAD). Multiple clinical diagnostic laboratories have classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as VUS-possibly benign.

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