ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.835G>A (p.Ala279Thr)

gnomAD frequency: 0.02258  dbSNP: rs61748181
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176003 SCV000227583 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000176003 SCV000269873 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala279Thr in exon 2 of TERT: This variant is not expected to have clinical signi ficance because it has been identified in 3.0% (255/8580) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs61748181).
Preventiongenetics, part of Exact Sciences RCV000176003 SCV000316923 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391188 SCV000452706 benign Dyskeratosis congenita, autosomal dominant 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000295005 SCV000452707 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000032399 SCV000452708 benign Aplastic anemia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV002513304 SCV000561747 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001534715 SCV001751657 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433483 SCV002678574 benign Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 2014-12-24 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001534715 SCV004562803 benign not provided 2023-11-01 criteria provided, single submitter clinical testing
GeneReviews RCV000032399 SCV000056055 not provided Aplastic anemia no assertion provided literature only
Center of Medical Genetics and Primary Health Care RCV001269369 SCV001448729 benign Malignant tumor of breast no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000176003 SCV001741333 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000176003 SCV001798782 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000176003 SCV001808818 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000176003 SCV001932263 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000176003 SCV001955661 benign not specified no assertion criteria provided clinical testing

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