ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3521G>C (p.Arg1174Thr)

dbSNP: rs786202662
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
Ambry Genetics RCV000165581 SCV000216315 uncertain significance Hereditary cancer-predisposing syndrome 2014-09-02 criteria provided, single submitter clinical testing The p.R1174T variant (also known as c.3521G>C), located in coding exon 19 of the BRIP1 gene, results from a G to C substitution at nucleotide position 3521. The arginine at codon 1174 is replaced by threonine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6499 samples (12998 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.005% (greater than 22000 alleles tested) in our clinical cohort. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.R1174T remains unclear.
Sema4, Sema4 RCV000165581 SCV002533697 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-16 criteria provided, single submitter curation

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.