ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8730C>G (p.Leu2910=) (rs551041839)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164225 SCV000214846 likely benign Hereditary cancer-predisposing syndrome 2014-10-24 criteria provided, single submitter clinical testing
Color RCV000164225 SCV000682510 likely benign Hereditary cancer-predisposing syndrome 2015-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000444064 SCV000512184 benign not specified 2015-08-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000586530 SCV000694384 likely benign not provided 2016-02-01 criteria provided, single submitter clinical testing Variant summary: ATM c.8730C>G variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a damaging outcome for this variant. 5/5 Alamut algorithms predict no significant change to normal splicing. This variant is found in 92/121410 control chromosomes (1 homozygote) at a frequency of 0.0007578, which does not significantly exceed maximal expected frequency of a pathogenic ATM allele (0.0039528). However, this variant is found mostly in South Asians, with an allele frequency of 0.005451, which exceeds the maximal expected frequency of a pathogenic ATM allele, suggesting that this synonymous mutation is a benign polymorphism in South Asians. In addition, multiple clinical diagnostic laboratories classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as likely benign.
Invitae RCV000122891 SCV000166149 benign Ataxia-telangiectasia syndrome 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000444064 SCV000805631 benign not specified 2017-05-15 criteria provided, single submitter clinical testing

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.