ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2517G>A (p.Thr839=)

gnomAD frequency: 0.00178  dbSNP: rs140124989
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249762 SCV000316915 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370894 SCV000452488 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2018-01-13 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 RCV000787040 SCV000452489 likely benign Dyskeratosis congenita, autosomal dominant 2 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000326757 SCV000452490 likely benign Aplastic anemia 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV003103751 SCV000561734 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000249762 SCV000597446 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000787040 SCV000925955 likely benign Dyskeratosis congenita, autosomal dominant 2 2019-03-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255351 SCV002533135 benign Dyskeratosis congenita 2020-10-16 criteria provided, single submitter curation
Ambry Genetics RCV002255351 SCV002741632 benign Dyskeratosis congenita 2016-09-21 criteria provided, single submitter clinical testing This alteration is classified as 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316457 SCV004015589 benign Acute myeloid leukemia 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001701926 SCV004153854 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing TERT: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701926 SCV001928279 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701926 SCV001964149 likely benign not provided no assertion criteria provided clinical testing

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