ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7788+3A>G (rs869312788)

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
GeneDx RCV000482677 SCV000569003 uncertain significance not provided 2015-12-11 criteria provided, single submitter clinical testing This variant is denoted ATM c.7788+3A>G or IVS52+3A>G and consists of a A>G nucleotide substitution at the +3 position of intron 52 of the ATM gene. Multiple in silico models predict this variant to destroy the nearby natural donor site, and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM c.7788+3A>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The adenine (A) nucleotide that is altered is conserved across species. Based on currently available information, it is unclear whether ATM c.7788+3A>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000779769 SCV000916558 uncertain significance not specified 2017-09-07 criteria provided, single submitter clinical testing Variant summary: The ATM c.7788+3A>G variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict the weakening or loss of a 5' splice donor site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 119830 control chromosomes and was reported in one patient with AT along with a truncating ATM mutation and one patient with ovarian cancer in the literature. One clinical diagnostic laboratory/reputable database classified this variant as uncertain significance. Taken together, this variant is classified as VUS.

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.