Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Endocrinology Laboratory, |
RCV000112568 | SCV002003987 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002513667 | SCV003441895 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2022-03-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 55464). This missense change has been observed in individual(s) with breast cancer (PMID: 12497638). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1739 of the BRCA1 protein (p.Asp1739Tyr). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt BRCA1 protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Asp1739 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9333265, 12827452, 30209399, 32546644). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. |
Breast Cancer Information Core |
RCV000112568 | SCV000145399 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000112568 | SCV001241940 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |