ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3381_3384del (p.Gln1128fs) (rs587781971)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130359 SCV000185210 pathogenic Hereditary cancer-predisposing syndrome 2017-10-16 criteria provided, single submitter clinical testing The c.3381_3384delTCAG pathogenic mutation, located in coding exon 22 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 3381 to 3384, causing a translational frameshift with a predicted alternate stop codon. This pathogenic mutation (designated as 3381delTCAG) was reported in an individual with ataxia-telangiectasia, although it was not noted whether a second mutation was identified (Castellví-Bel S et al. Hum. Mutat. 1999; 14(2):156-62). This mutation was also observed in conjunction with a BRCA2 pathogenic mutation in an individual diagnosed with breast cancer at age 33 who had a family history of breast, pancreatic, thyroid and esophageal cancer (Tung N et al. J. Clin. Oncol. 2016 May; 34(13):1460-8). 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.
Counsyl RCV000410669 SCV000486571 likely pathogenic Ataxia-telangiectasia syndrome 2016-06-27 criteria provided, single submitter clinical testing
Invitae RCV000410669 SCV000622416 pathogenic Ataxia-telangiectasia syndrome 2019-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1128Lysfs*3) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with ataxia-telangiectasia (PMID: 10425038). This variant is also known as 3381delTCAG in the literature. ClinVar contains an entry for this variant (Variation ID: 141734). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Color Health, Inc RCV000130359 SCV000911666 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 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.