Annotation Detail

Information
Associated Genes
MTOR
Associated Variants
MTOR p.Glu1799Lys (p.E1799K) ( ENST00000361445.9, ENST00000703140.1 )
MTOR p.Glu1799Lys (p.E1799K) ( ENST00000361445.9, ENST00000703140.1 )
Associated Disease
clear cell renal cell carcinoma
Source Database
CIViC Evidence
Description
Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The cell line SNU349, with MTOR mutation E1799K was hypersensitive to rapamycin treatment (IC50 of 0.19 nmol/L).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1321
Gene URL
https://civic.genome.wustl.edu/links/genes/2073
Variant URL
https://civic.genome.wustl.edu/links/variants/544
Rating
2
Evidence Type
Predictive
Disease
Clear Cell Renal Cell Carcinoma
Evidence Direction
Supports
Drug
Sirolimus
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
24631838
Drugs
Drug NameSensitivitySupported
SirolimusSensitivitytrue