ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8898_8899CA[1] (p.Thr2967fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757041 SCV000885097 pathogenic not provided 2018-03-06 criteria provided, single submitter clinical testing The BRCA2 c.8900_8901delCA; p.Thr2967fs variant, to our knowledge, is not reported in the medical literature or in gene specific databases. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. A frameshift variant located 2 positions downstream (c.8904delC; p.Val2969fs, reported as 9132delC) has been reported in individuals and families affected with breast cancer before the age of 50 and is considered pathogenic (Frank 1998). The p.Thr2967fs variant is a frameshift resulting from the deletion of 2 nucleotides and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on the above information, this variant is considered pathogenic. References: Frank T et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol. 1998 Jul;16(7):2417-25.

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.