ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8149A>T (p.Lys2717Ter) (rs774334667)

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 RCV000483856 SCV000571402 likely pathogenic not provided 2016-08-19 criteria provided, single submitter clinical testing This variant is denoted ATM c.8149A>T at the cDNA level and p.Lys2717Ter (K2717X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with breast cancer (Eccles 2016) and is considered likely pathogenic.

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.