Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Asp821Tyr (p.D821Y) ( ENST00000412167.7, ENST00000689832.1, ENST00000288135.6, ENST00000687246.1, ENST00000686011.1, ENST00000687109.1, ENST00000687295.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Asp821Tyr (p.D821Y) ( 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
28 acral or mucosal melanomas were examined for KIT expression and mutations (exons 11, 13, 17, and 18). Two of 19 melanomas examined harbored KIT mutations, with one subject harboring a D820Y mutation. Western blotting showed KIT phosphorylation (Y219) in this case and the SM3 cell line harboring the D820Y mutation. The SM3 cell line showed significant growth inhibition with sunitinib exposures of 1uM and 10uM while imatinib showed no activity. The authors comment that this indicates a potential role for sunitinib in growth inhibition of acral melanomas.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2888
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/986
Rating
2
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Sunitinib
Evidence Level
D
Pubmed
19035443
Drugs
Drug NameSensitivitySupported
SunitinibN/Atrue