Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000219964 | SCV000277464 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-03 | criteria provided, single submitter | clinical testing | The p.P2914A variant (also known as c.8740C>G), located in coding exon 20 of the BRCA2 gene, results from a C to G substitution at nucleotide position 8740. The proline at codon 2914 is replaced by alanine, an amino acid with highly 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. |
| Color Diagnostics, |
RCV000219964 | SCV000904832 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-05 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001228457 | SCV001400857 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2025-01-23 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2914 of the BRCA2 protein (p.Pro2914Ala). 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: 233149). 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. |
| Baylor Genetics | RCV003475029 | SCV004211783 | uncertain significance | Familial cancer of breast | 2023-10-31 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477756 | SCV004220624 | uncertain significance | not provided | 2022-11-10 | criteria provided, single submitter | clinical testing | The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant. |