Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562837 | SCV000660974 | likely benign | Hereditary cancer-predisposing syndrome | 2020-02-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Invitae | RCV001853018 | SCV002187048 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-04-26 | 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. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 16528612, 20516115, 30209399, 30257991). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 55389). This missense change has been observed in individual(s) with breast cancer (PMID: 12827452). This variant is present in population databases (rs80357387, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1695 of the BRCA1 protein (p.Phe1695Leu). |
Breast Cancer Information Core |
RCV000112493 | SCV000145305 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 1999-06-22 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000112493 | SCV001244065 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |