Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553250 | SCV000633661 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2017-05-10 | criteria provided, single submitter | clinical testing | This variant, c.3277delinsTTCAGAA, is a complex sequence change that results in the deletion of 1 amino acid and insertion of 3 amino acids of the BRIP1 protein (p.Leu1093delinsPheArgIle). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRIP1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the replaced amino acids is currently unknown. In summary, this variant is a novel complex change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |