Annotation Detail

Information

Associated Genes: KIT
Associated Variants: KIT p.Val561Gly (p.V561G) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Val561Gly (p.V561G) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease: gastrointestinal stromal tumor
Source Database: CIViC Evidence
Description: In an in vitro kinase study, a KIT V560G primary activating mutant kinase demonstrated sensitivity to imatinib (IC50: 38nmol/L vs. 640nmol/L), regorafenib (IC50: 27nmol/L vs. 533nmol/L), and ponatinib (IC50: 0.3nmol/L vs. 6nmol/L) treatments compared to the wildtype KIT. IC50 was determined by assessing kinase activity.
Variant Origin: somatic
Variant Origin: Somatic
Evidence URL: https://civic.genome.wustl.edu/links/evidence_items/7395
Gene URL: https://civic.genome.wustl.edu/links/genes/29
Variant URL: https://civic.genome.wustl.edu/links/variants/972
Rating: 3
Evidence Type: Predictive
Disease: Gastrointestinal Stromal Tumor
Evidence Direction: Supports
Drug: Imatinib,Ponatinib,Regorafenib
Evidence Level: D
Clinical Significance: Sensitivity/Response
Pubmed: 25239608

Drugs