Annotation Detail

Information

Associated Genes: KIT
Associated Variants: KIT p.Val560Asp (p.V560D) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Val560Asp (p.V560D) ( ENST00000690543.1, ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000692783.1 )
Associated Disease: gastrointestinal stromal tumor
Source Database: CIViC Evidence
Description: In an in vitro kinase study, a KIT V559D primary activating mutant kinase demonstrated sensitivity to imatinib (IC50: 36nmol/L vs. 640nmol/L), regorafenib (IC50: 57nmol/L vs. 533nmol/L), and ponatinib (IC50: 0.8nmol/L vs. 6nmol/L) treatments compared to the wild-type KIT. IC50 was determined by assessing kinase activity.
Variant Origin: somatic
Variant Origin: Somatic
Evidence URL: https://civic.genome.wustl.edu/links/evidence_items/4459
Gene URL: https://civic.genome.wustl.edu/links/genes/29
Variant URL: https://civic.genome.wustl.edu/links/variants/968
Rating: 2
Evidence Type: Predictive
Disease: Gastrointestinal Stromal Tumor
Evidence Direction: Supports
Drug: Regorafenib,Ponatinib,Imatinib
Evidence Level: D
Clinical Significance: Sensitivity/Response
Pubmed: 25239608

Drugs