ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7632C>T (p.Gly2544=) (rs551834979)

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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) RCV000495794 SCV000579164 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;
Ambry Genetics RCV000219257 SCV000277312 likely benign Hereditary cancer-predisposing syndrome 2015-07-16 criteria provided, single submitter clinical testing
Invitae RCV000588553 SCV000635597 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588553 SCV000695089 likely benign not provided 2016-04-22 criteria provided, single submitter clinical testing Variant summary: Variant affects a non-conserved nucleotide and results in a synonymous mutation. 4/5 in silico tools via Alamut predict the variant not to have an impact on splicing. It was observed in the large and broad cohorts of the ExAC project at an allele frequency of 1/30182 which does not exceed the maximal allele frequency of a disease causing BRCA2 allele (1/1333). To our knowledge, the variant was not reported in HBOC patients with strong evidence for pathogenicity. A functional study reported the variant not to have an impact on splicing (Houdayer_BRCA1&2_HM_2012). Furthermore, in an internal sample, the variant was observed to co-occur with a pathogenic BRCA2 variant further supporting a neutral impact. UMD lists variant with a classification of Likely neutral. Considering all evidence, the variant was classified as Likely Benign.
GeneDx RCV000613932 SCV000713899 likely benign not specified 2017-11-06 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000588553 SCV000778714 likely benign not provided 2017-01-26 no assertion criteria provided clinical testing

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