ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)

dbSNP: rs1591191412
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
Ambry Genetics RCV001027117 SCV001189623 pathogenic Hereditary cancer-predisposing syndrome 2023-08-15 criteria provided, single submitter clinical testing The c.8052_8055delGTCA pathogenic mutation, located in coding exon 54 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 8052 to 8055, causing a translational frameshift with a predicted alternate stop codon (p.Q2684Hfs*8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Invitae RCV001057885 SCV001222406 pathogenic Ataxia-telangiectasia syndrome 2020-03-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln2684Hisfs*8) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003455139 SCV004186011 pathogenic Familial cancer of breast 2023-11-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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.