Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Val561Asp (p.V561D) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Val561Asp (p.V561D) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
cancer
Source Database
CIViC Evidence
Description
In an in vitro study, Chinese hamster ovary cells expressing KIT V560D mutation demonstrated sensitivity to imatinib treatment (IC50 = 100 vs IC50 = 1000) when compared to Chinese hamster ovary cells expressing ligand-activated wild-type KIT. Sensitivity was determined by assessing KIT auto-phosphorylation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5348
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/971
Rating
2
Evidence Type
Predictive
Disease
Cancer
Evidence Direction
Supports
Drug
Imatinib Mesylate
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
18955458
Drugs
Drug NameSensitivitySupported
Imatinib MesylateSensitivitytrue