ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4699C>T (p.Leu1567=) (rs146514381)

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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 RCV000164493 SCV000215142 likely benign Hereditary cancer-predisposing syndrome 2014-08-27 criteria provided, single submitter clinical testing
Color RCV000164493 SCV000911200 likely benign Hereditary cancer-predisposing syndrome 2018-01-17 criteria provided, single submitter clinical testing
Counsyl RCV000409362 SCV000488862 likely benign Breast-ovarian cancer, familial 2 2016-07-06 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000409362 SCV000578947 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/).
GeneDx RCV000614420 SCV000727818 likely benign not specified 2018-02-15 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.
Integrated Genetics/Laboratory Corporation of America RCV000587749 SCV000694797 uncertain significance not provided 2016-10-24 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4699C>T (p.Leu1567Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a benign outcome for this substitution along with 5/5 splice prediction tools predicting the variant not to have an impact on splicing. However, these predictions have yet to be confirmed by function studies. This variant was found in 2/120712 control chromosomes at a frequency of 0.0000166, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). To our knowledge, the variant has not been reported in patients with strong evidence for causality. One clinical diagnostic laboratory classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000476414 SCV000560366 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-06 criteria provided, single submitter clinical testing

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