ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6736_6755delinsCA (p.Cys2246_Thr2252delinsHis) (rs1064794237)

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 RCV000481474 SCV000568330 likely pathogenic not provided 2017-07-24 criteria provided, single submitter clinical testing This variant is denoted ATM c.6736_6755del20insCA at the cDNA level and p.Cys2246_Thr2252delinsHis (C2246_T2252delinsH) at the protein level. The surrounding sequence is AGAA[del20][insCA]CAAA. This in-frame deletion and insertion results in the deletion of seven correct residues and the addition of one incorrect residue (Histidine). This variant has been reported in the homozygous state in an individual with ataxia-telangiectasia (Castellvi-Bel 1999). ATM c.6736_6755del20insCA was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Even though this variant results in an in-frame transcript, the deleted residues are located within the FAT domain (Stracker 2013), and most are either conserved or conserved through mammals. In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, we consider this variant to be 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.