Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000571496 | SCV000673131 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-07-20 | criteria provided, single submitter | clinical testing | The p.P3285S variant (also known as c.9853C>T), located in coding exon 26 of the BRCA2 gene, results from a C to T substitution at nucleotide position 9853. The proline at codon 3285 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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. |
| Labcorp Genetics |
RCV000817796 | SCV000958379 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2018-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with serine at codon 3285 of the BRCA2 protein (p.Pro3285Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 485442). This variant is not present in population databases (ExAC no frequency). |