ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter)

dbSNP: rs1555152104
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
Counsyl RCV000672244 SCV000797334 uncertain significance Ataxia-telangiectasia syndrome 2018-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672244 SCV003340929 uncertain significance Ataxia-telangiectasia syndrome 2024-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys3053*) in the ATM gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the ATM protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with lung adenocarcinoma (PMID: 32866655). ClinVar contains an entry for this variant (Variation ID: 556258). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant disrupts a region of the ATM protein in which other variant(s) (p.Ala3054Val) have been observed in individuals with ATM-related conditions (PMID: 31050087). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003465513 SCV004210306 uncertain significance Familial cancer of breast 2023-06-04 criteria provided, single submitter clinical testing

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.