ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3994-11_3994-4del

dbSNP: rs1060501665
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000459149 SCV000547037 likely benign Ataxia-telangiectasia syndrome 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001704556 SCV000568103 likely benign not provided 2019-12-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581203 SCV000687510 likely benign Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000478023 SCV001737655 uncertain significance not specified 2021-05-30 criteria provided, single submitter clinical testing Variant summary: ATM c.3994-11_3994-4delTGCCCTTG alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246136 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3994-11_3994-4delTGCCCTTG in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign, n=2; VUS, n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV000581203 SCV002622487 likely benign Hereditary cancer-predisposing syndrome 2020-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000478023 SCV004027219 likely benign not specified 2023-08-15 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.