Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000637407 | SCV000758863 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-04-24 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. 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 performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 33609447) indicates that this missense variant is not expected to disrupt BRCA2 function. ClinVar contains an entry for this variant (Variation ID: 252416). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2901 of the BRCA2 protein (p.Gly2901Val). |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759677 | SCV000889161 | uncertain significance | not provided | 2023-03-13 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000004 (1/251324 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant. |
| Ambry Genetics | RCV001018206 | SCV001179408 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Baylor Genetics | RCV003475845 | SCV004212826 | uncertain significance | Familial cancer of breast | 2022-03-24 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000238663 | SCV000297572 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2007-10-02 | no assertion criteria provided | clinical testing |