ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2144G>A (p.Gly715Glu)

dbSNP: rs1566226193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774965 SCV000909057 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000774965 SCV003846528 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 RCV004803201 SCV005424318 uncertain significance BRCA2-related cancer predisposition 2024-03-24 criteria provided, single submitter clinical testing This missense variant replaces glycine with glutamic acid at codon 715 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in a multifactorial analysis with a segregation likelihood ratio for pathogenicity of 1.7051 (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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