ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2626G>A (p.Gly876Arg)

dbSNP: rs1567794885
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000777401 SCV000913263 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-03 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000777401 SCV003851023 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV003645113 SCV004551315 uncertain significance Hereditary breast ovarian cancer syndrome 2023-04-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 876 of the BRCA1 protein (p.Gly876Arg). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 631233). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000777401 SCV005025809 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-27 criteria provided, single submitter clinical testing The p.G876R variant (also known as c.2626G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 2626. The glycine at codon 876 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004803210 SCV005428559 uncertain significance BRCA1-related cancer predisposition 2024-06-11 criteria provided, single submitter clinical testing

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