ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) (rs35719940)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151992 SCV000200551 uncertain significance not specified 2020-03-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Risk Allele. TERT c.3184G>A (p.Ala1062Thr) has been associated with increased risk for acute myeloid leukemia. This variant has been observed in multiple ethnic backgrounds with highest frequencies in individuals of non-Finnish European ancestry (2.1%, Genome Aggregation Database (gnomAD); rs35719940) and is present in ClinVar (ID: 39121). Several small studies implicate this variant is associated with a number of different hematological and pulmonary conditions including pulmonary fibrosis (Tsakiri 2007, Alder 2008), AML (Calado 2009, Aref 2014), DL-BCL and CLL (Hills 2009) and cirrhosis (Calado 2011). Functional studies from all but one group (Calado 2011) suggest that that this variant does not have a significant impact on telomerase activity (Alder 2008, Gramatges 2013, Zaug 2013, Zhang 2014, Hoffman 2017). In summary, it is uncertain if this variant is a risk factor for TERT-related conditions.
Invitae RCV000232252 SCV000291872 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000151992 SCV000316921 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000032393 SCV000452227 likely benign Aplastic anemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000395635 SCV000452228 likely benign Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000305704 SCV000452229 likely benign Dyskeratosis congenita, autosomal dominant, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000151992 SCV000605361 uncertain significance not specified 2016-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000151992 SCV000702134 benign not specified 2016-10-26 criteria provided, single submitter clinical testing
OMIM RCV000030632 SCV000053310 risk factor Leukemia, acute myeloid, susceptibility to 2009-01-27 no assertion criteria provided literature only
GeneReviews RCV000032393 SCV000056049 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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.