ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3977del (p.Asn1326fs)

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
Neuberg Centre For Genomic Medicine, NCGM RCV004818945 SCV005438940 likely pathogenic Ataxia-telangiectasia syndrome criteria provided, single submitter clinical testing The observed frameshift variant c.3977delp.Asn1326ThrfsTer23 in the ATM gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. This variant causes a frameshift starting with codon Asparagine 1326, changes this amino acid to Threonine residue, and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Asn1326ThrfsTer23. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing Shalash AS, et al., 2021. For these reasons, this variant has been classified as 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.