ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3169A>G (p.Lys1057Glu)

dbSNP: rs1566227924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001290630 SCV001478744 uncertain significance not specified 2021-01-27 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3169A>G (p.Lys1057Glu) results in a conservative amino acid change located in the BRCA2 repeat region (IPR002093) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 247022 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3169A>G in individuals affected with Hereditary Breast and Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001776174 SCV002014022 uncertain significance not provided 2020-07-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 3397A>G
University of Washington Department of Laboratory Medicine, University of Washington RCV003158656 SCV003851732 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
All of Us Research Program, National Institutes of Health RCV004004948 SCV004834496 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2024-01-11 criteria provided, single submitter clinical testing

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