Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000470374 | SCV000549603 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2024-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 2341 of the BRCA2 protein (p.Arg2341Gly). 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: 409485). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BRCA2 protein function with a negative predictive value of 95%. 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. |
| Ambry Genetics | RCV001025937 | SCV001188221 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-04 | criteria provided, single submitter | clinical testing | The p.R2341G variant (also known as c.7021C>G), located in coding exon 13 of the BRCA2 gene, results from a C to G substitution at nucleotide position 7021. The arginine at codon 2341 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not 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. |
| Gene |
RCV003320650 | SCV004025796 | uncertain significance | not provided | 2023-02-09 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 7249C>G; This variant is associated with the following publications: (PMID: 29884841, 32377563) |
| Baylor Genetics | RCV003463916 | SCV004213616 | uncertain significance | Familial cancer of breast | 2023-09-03 | criteria provided, single submitter | clinical testing |