ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3097A>T (p.Lys1033Ter)

dbSNP: rs1591608334
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018569 SCV001179823 pathogenic Hereditary cancer-predisposing syndrome 2019-08-30 criteria provided, single submitter clinical testing The p.K1033* pathogenic mutation (also known as c.3097A>T), located in coding exon 20 of the ATM gene, results from an A to T substitution at nucleotide position 3097. This changes the amino acid from a lysine to a stop codon within coding exon 20. 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.

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.