Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001853031 | SCV002205534 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2021-11-30 | 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. Studies have shown that this variant is associated with altered splicing, but the impact on the resulting protein product is unknown (PMID: 18273839). 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 BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 55706). This variant is also known as 911T>G. This missense change has been observed in individual(s) with breast or ovarian cancer (PMID: 18273839, 25352972). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 264 of the BRCA1 protein (p.Ser264Arg). |
| University of Washington Department of Laboratory Medicine, |
RCV003157388 | SCV003847934 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |
| Breast Cancer Information Core |
RCV000112787 | SCV000145683 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2001-10-29 | no assertion criteria provided | clinical testing |