ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2284_2285delinsTA (p.Arg762Tyr)

dbSNP: rs1555590511
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.