ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6551A>G (p.Gln2184Arg)

dbSNP: rs1216313735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025403 SCV001187584 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-31 criteria provided, single submitter clinical testing The p.Q2184R variant (also known as c.6551A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 6551. The glutamine at codon 2184 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV001025403 SCV003847262 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 RCV003645153 SCV004396085 uncertain significance Hereditary breast ovarian cancer syndrome 2023-03-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 2184 of the BRCA2 protein (p.Gln2184Arg). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 826479). 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.

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