Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Val655Ala (p.V655A) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Val655Ala (p.V655A) ( ENST00000689832.1, ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
In GIST tumor cells and patients harboring KIT V654A mutation, SU11248 is effective for those that are refractory to imatinib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/304
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/73
Rating
3
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Sunitinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
16638875
Drugs
Drug NameSensitivitySupported
SunitinibSensitivitytrue