ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2194G>C (p.Glu732Gln)

dbSNP: rs1244303575
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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 RCV001187741 SCV001354612 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-22 criteria provided, single submitter clinical testing
Molecular Endocrinology Laboratory, Christian Medical College RCV001788423 SCV002030306 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862962 SCV002159033 uncertain significance Hereditary breast ovarian cancer syndrome 2022-11-22 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 925658). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 732 of the BRCA2 protein (p.Glu732Gln).
Ambry Genetics RCV001187741 SCV002729458 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-01 criteria provided, single submitter clinical testing The p.E732Q variant (also known as c.2194G>C), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 2194. The glutamic acid at codon 732 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV001187741 SCV003846561 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).

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