ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6079A>G (p.Arg2027Gly)

dbSNP: rs80358846
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001347126 SCV001541372 uncertain significance Hereditary breast ovarian cancer syndrome 2023-04-14 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of BRCA2-related conditions (PMID: 10923033). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 2027 of the BRCA2 protein (p.Arg2027Gly). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 52004). 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 BRCA2 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157310 SCV003850905 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).
Ambry Genetics RCV003157310 SCV004052644 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-02 criteria provided, single submitter clinical testing The p.R2027G variant (also known as c.6079A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 6079. The arginine at codon 2027 is replaced by glycine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004803867 SCV005424518 uncertain significance BRCA2-related cancer predisposition 2024-09-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113528 SCV000146763 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2003-12-23 no assertion criteria provided clinical testing

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