ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2125-15_2128del

dbSNP: rs1064792940
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000463540 SCV000546857 likely pathogenic Ataxia-telangiectasia syndrome 2016-12-08 criteria provided, single submitter clinical testing This sequence change deletes 19 nucleotides at the boundary of intron 13 and exon 14 of the ATM mRNA (c.2125-15_2128del). It affects an acceptor splice site in intron 13 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with an ATM-related disease.

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.