ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3292del (p.Gln1098fs)

dbSNP: rs1555090075
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671707 SCV000796711 likely pathogenic Ataxia-telangiectasia syndrome 2017-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019714 SCV001181106 pathogenic Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing The c.3292delC pathogenic mutation, located in coding exon 22 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 3292, causing a translational frameshift with a predicted alternate stop codon (p.Q1098Rfs*11). This mutation (designated as c.3291delC) was reported in a patient with ataxia telangiectasia who also had another ATM alteration in trans (Piane M et al. J. Neurol. Sci. 2016 Dec;371:48-53). 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 RCV000671707 SCV002237506 pathogenic Ataxia-telangiectasia syndrome 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1098Argfs*11) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ataxia telangiectasia (PMID: 27871447). This variant is also known as c.3291delC. ClinVar contains an entry for this variant (Variation ID: 555811). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465510 SCV004209391 pathogenic Familial cancer of breast 2023-09-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003465510 SCV004931593 pathogenic Familial cancer of breast 2024-01-19 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.