Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003644742 | SCV004478882 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-06-16 | 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. 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 histidine, which is basic and polar, at codon 3329 of the BRCA2 protein (p.Asn3329His). |
| Ambry Genetics | RCV004373920 | SCV005032053 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-03 | criteria provided, single submitter | clinical testing | The p.N3329H variant (also known as c.9985A>C), located in coding exon 26 of the BRCA2 gene, results from an A to C substitution at nucleotide position 9985. The asparagine at codon 3329 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |