ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6260G>C (p.Arg2087Thr)

dbSNP: rs1593908026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801266 SCV000941037 uncertain significance Hereditary breast ovarian cancer syndrome 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 2087 of the BRCA2 protein (p.Arg2087Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 646887). 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 RCV003158165 SCV003852364 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 RCV003158165 SCV005028817 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-21 criteria provided, single submitter clinical testing The p.R2087T variant (also known as c.6260G>C), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 6260. The arginine at codon 2087 is replaced by threonine, an amino acid with similar 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.

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