ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8103_8104del (p.Ile2702fs) (rs1064793406)

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 RCV000480632 SCV000566037 pathogenic not provided 2015-03-24 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in ATM is denoted c.8103_8104delAA at the cDNA level and p.Ile2702ArgfsX15 (I2702RfsX15) at the protein level. The normal sequence, with the bases that are deleted in braces, is AAAT[AA]TAGA. The deletion causes a frameshift, which changes an Isoleucine to an Arginine at codon 2702, and creates a premature stop codon at position 15 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. ATM c.8103_8104delAA, previously reported as 8103delAA, has been observed in the compound heterozygous state in individuals with Ataxia-Telangiectasia (Bernstein 2003, Mitui 2003). we consider this variant to be pathogenic.The presence of

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.