ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2099T>A (p.Leu700Ter) (rs1555282449)

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
GeneDx RCV000522630 SCV000618001 pathogenic not provided 2017-11-20 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.2099T>A at the cDNA level and p.Leu700Ter (L700X) atthe protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon(TTA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is consideredpathogenic

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.