Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165863 | SCV000216612 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-12 | criteria provided, single submitter | clinical testing | The p.S1484T variant (also known as c.4450T>A), located in coding exon 12 of the BRCA1 gene, results from a T to A substitution at nucleotide position 4450. The serine at codon 1484 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV002513661 | SCV003496321 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2022-02-04 | 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 BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 55201). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1484 of the BRCA1 protein (p.Ser1484Thr). This variant is not present in population databases (gnomAD no frequency). |
MGZ Medical Genetics Center | RCV003607224 | SCV004543875 | benign | Familial cancer of breast | 2024-02-09 | criteria provided, single submitter | clinical testing | ACMG codes applied following ENIGMA VCEP rules: BP1_STR, BS3, PM2_SUP |
Breast Cancer Information Core |
RCV000112335 | SCV000145088 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 1999-01-15 | no assertion criteria provided | clinical testing |