ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1794A>G (p.Leu598=) (rs876659644)

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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) RCV000495790 SCV000578354 likely benign Breast-ovarian cancer, familial 1 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 RCV000217796 SCV000276324 likely benign Hereditary cancer-predisposing syndrome 2015-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000430792 SCV000521980 likely benign not specified 2017-11-27 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.
Invitae RCV000476322 SCV000560240 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589393 SCV000698885 uncertain significance not provided 2016-03-24 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1794A>G variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a benign outcome for this variant, and 5/5 Alamut algorithms predict no change to splice sites. ESEfinder predicts creation of SRp55 motif; the effect of this change is unknown. No functional studies have been carried out to confirm or refute these in silico predictions. This variant was not found in 121074 control chromosomes, has not been reported in publically available databases, or reported to co-occur with pathogenic variants. Taken together, this variant was classified as a VUS-possibly benign until additional information is available.
Color RCV000217796 SCV000903693 likely benign Hereditary cancer-predisposing syndrome 2018-03-15 criteria provided, single submitter clinical testing

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