ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter)

gnomAD frequency: 0.00001  dbSNP: rs200976093
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115183 SCV000149092 pathogenic not provided 2014-01-20 criteria provided, single submitter clinical testing This pathogenic variant is denoted ATM c.3931C>T at the cDNA level and p.Gln1311Ter (Q1311X) at the protein level. This substitution creates a nonsense variant, changing a Glutamine to a premature stop codon (CAA>TAA). This variant 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 recessively-inherited Ataxia-telangiectasia (Perreault 2012). We therefore consider this variant to be pathogenic.
Ambry Genetics RCV000492834 SCV000581443 pathogenic Hereditary cancer-predisposing syndrome 2016-09-26 criteria provided, single submitter clinical testing The p.Q1311* pathogenic mutation (also known as c.3931C>T), located in coding exon 25 of the ATM gene, results from a C to T substitution at nucleotide position 3931. This changes the amino acid from a glutamine to a stop codon within coding exon 25. This mutation has been previously identified in a homozygous state in one individual of Cambodian descent with ataxia-telangiectasia (Perreault S et al. Pediatr. Neurol. 2012 May; 46(5):322-4). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003500505 SCV004296151 pathogenic Ataxia-telangiectasia syndrome 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1311*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant is present in population databases (rs200976093, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of ATM-related conditions (PMID: 22520355, 30322717). ClinVar contains an entry for this variant (Variation ID: 127378). For these reasons, this variant has been classified as 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.