Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000476601 | SCV000549825 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2016-08-15 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change replaces glutamic acid with valine at codon 2282 of the BRCA2 protein (p.Glu2282Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine. |
| Ambry Genetics | RCV001025722 | SCV001187966 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-11-03 | criteria provided, single submitter | clinical testing | The p.E2282V variant (also known as c.6845A>T), located in coding exon 11 of the BRCA2 gene, results from an A to T substitution at nucleotide position 6845. The glutamic acid at codon 2282 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is 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. |