ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.332_334delGAG (rs1060501621)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580443 SCV000682117 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-24 criteria provided, single submitter clinical testing
Invitae RCV000464718 SCV000546909 uncertain significance Ataxia-telangiectasia syndrome 2016-07-01 criteria provided, single submitter clinical testing This variant, c.332_334delGAG, is a complex sequence change that results in the deletion of 2 amino acids and insertion of 1 amino acid in the ATM protein (p.Arg111_Ala112delinsThr). It affects the first 3 nucleotides of exon 5 of the ATM coding sequence. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ATM-related disease. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel sequence change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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.