Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000218675 | SCV000275789 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-21 | criteria provided, single submitter | clinical testing | The p.S2358P variant (also known as c.7072T>C), located in coding exon 13 of the BRCA2 gene, results from a T to C substitution at nucleotide position 7072. The serine at codon 2358 is replaced by proline, an amino acid with similar properties. This alteration has been identified in an individual diagnosed with breast and/or ovarian cancer (Santonocito C et al. Cancers (Basel), 2020 May;12:). This amino acid position is 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. |
| Color Diagnostics, |
RCV000218675 | SCV000906931 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-02 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001296151 | SCV001485107 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-05-30 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 32438681). This variant is present in population databases (rs80358937, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 2358 of the BRCA2 protein (p.Ser2358Pro). ClinVar contains an entry for this variant (Variation ID: 126129). 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. |
| Fulgent Genetics, |
RCV005008015 | SCV005633966 | uncertain significance | Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer | 2024-05-29 | criteria provided, single submitter | clinical testing | |
| Breast Cancer Information Core |
RCV000113703 | SCV000147016 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2003-12-23 | no assertion criteria provided | clinical testing |