Annotation Detail
Information
- Associated Genes
- MTOR
- Associated Variants
-
MTOR p.Cys1483Tyr (p.C1483Y)
(
ENST00000361445.9,
ENST00000703140.1 )
MTOR p.Cys1483Tyr (p.C1483Y) ( ENST00000361445.9, ENST00000703140.1 ) - Associated Disease
- T-cell acute lymphoblastic leukemia
- Source Database
- CIViC Evidence
- Description
- Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The cell line MOLT16, with MTOR mutation C1483Y was hypersensitive to rapamycin treatment (IC50 of 0.75 nmol/L).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1320
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2073
- Variant URL
- https://civic.genome.wustl.edu/links/variants/543
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- T-cell Acute Lymphoblastic Leukemia
- Evidence Direction
- Supports
- Drug
- Sirolimus
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24631838
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sirolimus | Sensitivity | true |