ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3281del (p.Asn1094fs)

dbSNP: rs776516754
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000704976 SCV000833953 pathogenic Ataxia-telangiectasia syndrome 2021-12-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 581217). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs776516754, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Asn1094Ilefs*15) 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).
Ambry Genetics RCV002442531 SCV002611488 pathogenic Hereditary cancer-predisposing syndrome 2020-08-10 criteria provided, single submitter clinical testing The c.3281delA pathogenic mutation, located in coding exon 21 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 3281, causing a translational frameshift with a predicted alternate stop codon (p.N1094Ifs*15). 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.
Baylor Genetics RCV003460982 SCV004216247 likely pathogenic Familial cancer of breast 2020-12-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003460982 SCV004933695 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.