ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2839-4T>C (rs1057522619)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001357612 SCV000528643 likely benign not provided 2020-07-31 criteria provided, single submitter clinical testing
Invitae RCV000527197 SCV000622368 likely benign Ataxia-telangiectasia syndrome 2020-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574947 SCV000665263 likely benign Hereditary cancer-predisposing syndrome 2019-10-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);RNA Studies
Color Health, Inc RCV000574947 SCV000912155 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001357612 SCV001553133 uncertain significance not provided no assertion criteria provided clinical testing The ATM c.2839-4T>C variant was not identified in the literature nor was it identified in the following databases: dbSNP, COGR, Cosmic, LOVD 3.0, and ATM-LOVD. The variant was identified in ClinVar (classified as likely benign by GeneDx and Invitae and classified as uncertain significance by Ambry Genetics). The variant was also not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.2839-4T>C variant is located in the 3' splice region but does not affect the invariant -1 or -2 positions. Positions -3 and -5 to -12 are also part of the splicing consensus sequence and variants involving these positions sometimes affect splicing; however, this variant is not located at any of these positions. Further, only 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predicts a greater than 10% difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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.