ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8585-3_8585-1delinsT

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
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003237381 SCV003936019 likely pathogenic Familial cancer of breast 2023-06-06 criteria provided, single submitter clinical testing A likely pathogenic mutation in the ATM gene (c.8585-3_8585-1delCAGinsT). This sequence change affects an acceptor splice site in intron 58 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in gnomAD genomes. This variant has not been reported in the literature. However, a variant that affects the same splice site has been reported in the literature in an individual affected with ataxia-telangiectasia (PMID: 23322442). This variant has no ClinVar entry. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and lossof- function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). Therefore, this variant has been classified as Likely Pathogenic. Heterozygous pathogenic/likely pathogenic mutations in the ATM gene cause susceptibility to breast cancer (OMIM# 114480). Homozygous or compound heterozygous pathogenic/likely pathogenic mutations in the ATM gene cause ataxia-telangiectasia (OMIM# 208900).

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.