Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000809156 | SCV000949297 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-11-20 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 3282 of the BRCA2 protein (p.Pro3282Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. |
| Ambry Genetics | RCV004949958 | SCV005548727 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-08-14 | criteria provided, single submitter | clinical testing | The p.P3282T variant (also known as c.9844C>A), located in coding exon 26 of the BRCA2 gene, results from a C to A substitution at nucleotide position 9844. The proline at codon 3282 is replaced by threonine, an amino acid with highly 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. Based on the available evidence, the clinical significance of this variant remains unclear. |