Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000225930 | SCV000283335 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-04-28 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 236914). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 2731 of the BRCA2 protein (p.Gln2731Glu). |
Mendelics | RCV000225930 | SCV000838869 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429088 | SCV002679661 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-17 | criteria provided, single submitter | clinical testing | The p.Q2731E variant (also known as c.8191C>G), located in coding exon 17 of the BRCA2 gene, results from a C to G substitution at nucleotide position 8191. The glutamine at codon 2731 is replaced by glutamic acid, an amino acid with highly 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. |
Institute for Biomarker Research, |
RCV000225930 | SCV004227994 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-10-31 | criteria provided, single submitter | clinical testing |