ClinVar Genomic variation as it relates to human health
NM_198253.3(TERT):c.840A>G (p.Glu280=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
TERT | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2971 | 3413 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 9, 2023 | RCV003776500.1 | |
Likely benign (1) |
|
Apr 12, 2021 | RCV004559439.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 08, 2024