Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003531218 | SCV004315655 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-08-16 | 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 glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 2899 of the BRCA2 protein (p.Gln2899His). |
| Ambry Genetics | RCV004950455 | SCV005551875 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-09-23 | criteria provided, single submitter | clinical testing | The p.Q2899H variant (also known as c.8697A>T), located in coding exon 20 of the BRCA2 gene, results from an A to T substitution at nucleotide position 8697. The glutamine at codon 2899 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |