Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000166255 | SCV000217035 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-23 | criteria provided, single submitter | clinical testing | The p.T2398S variant (also known as c.7193C>G), located in coding exon 13 of the BRCA2 gene, results from a C to G substitution at nucleotide position 7193. The threonine at codon 2398 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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. |
| Color Diagnostics, |
RCV000166255 | SCV000906932 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-27 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001775563 | SCV002013471 | uncertain significance | not provided | 2020-01-06 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27882345, 31191615) |
| Labcorp Genetics |
RCV002514207 | SCV003496251 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-07-06 | 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. This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 2398 of the BRCA2 protein (p.Thr2398Ser). 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: 52283). 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. |
| Breast Cancer Information Core |
RCV000113718 | SCV000147036 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | no assertion criteria provided | clinical testing |