Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000486358 | SCV000567224 | uncertain significance | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 7999A>G; This variant is associated with the following publications: (PMID: 12228710) |
| Ambry Genetics | RCV000562419 | SCV000668727 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-19 | criteria provided, single submitter | clinical testing | The p.N2591D variant (also known as c.7771A>G), located in coding exon 15 of the BRCA2 gene, results from an A to G substitution at nucleotide position 7771. The asparagine at codon 2591 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not 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. |
| Labcorp Genetics |
RCV002526542 | SCV003323928 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-08-17 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 419429). 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 asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 2591 of the BRCA2 protein (p.Asn2591Asp). |
| Baylor Genetics | RCV003463994 | SCV004216148 | uncertain significance | Familial cancer of breast | 2023-05-12 | criteria provided, single submitter | clinical testing |