Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Leu577Pro (p.L577P) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Leu577Pro (p.L577P) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
melanoma
Source Database
CIViC Evidence
Description
The melanoma cell line WM3211, which harbors the L576P mutation, is sensitive to dasatinib. Molecular modeling indicated the L576P mutation alters the conformation of KIT but did not alter the binding affinity of dasatinib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/42
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/72
Rating
3
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Dasatinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
19671763
Drugs
Drug NameSensitivitySupported
DasatinibSensitivitytrue