Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000463327 | SCV000549293 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2016-07-25 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. This sequence change replaces lysine with glutamine at codon 1711 of the BRCA1 protein (p.Lys1711Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. |
Ambry Genetics | RCV002348316 | SCV002646596 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-04 | 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. |
Brotman Baty Institute, |
RCV001078104 | SCV001244152 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |