ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1769+16G>A

gnomAD frequency: 0.00003  dbSNP: rs202108457
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248852 SCV000316906 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003105841 SCV002363315 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558608 SCV002716817 uncertain significance Dyskeratosis congenita 2015-07-16 criteria provided, single submitter clinical testing The c.1769+16G>A intronic variant results from a G to A substitution 16 nucleotides after coding exon 3 in the TERT gene. This variant was previously reported in the SNPDatabase as rs202108457. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied and 0.01% (1/8600) European American alleles. This nucleotide position is poorly conserved in available vertebrate species on limited alignment. In addition, A is the reference nucleotide in multiple species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this acceptor/donor splice site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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.