Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000553339 | SCV000633601 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2017-03-28 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel in-frame complex sequence change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the replaced amino acid is currently unknown. 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. This variant, c.2284_2285delCGinsTA, is a complex sequence change that results in the replacement of arginine with tyrosine at the highly conserved codon 762 of the BRIP1 protein (p.Arg762Tyr) but otherwise preserves the integrity of the reading frame. |
Ambry Genetics | RCV002448661 | SCV002736271 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-28 | criteria provided, single submitter | clinical testing | The c.2284_2285delCGinsTA variant, located in coding exon 15 of the BRIP1 gene, results from an in-frame deletion of CG and insertion of TA at nucleotide positions 2284 to 2285. This results in the substitution of the arginine residue for a tyrosine residue at codon 762, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |