Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000509620 | SCV000608255 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-12-08 | criteria provided, single submitter | clinical testing | The p.R329T variant (also known as c.986G>C), located in coding exon 9 of the BRCA2 gene, results from a G to C substitution at nucleotide position 986. The arginine at codon 329 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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, |
RCV000509620 | SCV003849754 | 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 |
RCV003645021 | SCV004486006 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2022-12-11 | 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: 441515). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 21120943). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 329 of the BRCA2 protein (p.Arg329Thr). |