Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529363 | SCV000636026 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2017-04-10 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. 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 phenylalanine with cysteine at codon 1772 of the BRCA1 protein (p.Phe1772Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine. |
Myriad Genetics, |
RCV001072688 | SCV004018058 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-02-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic. |
Brotman Baty Institute, |
RCV001072688 | SCV001238116 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |