Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Val561del (p.V561del) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Val561del (p.V561del) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
thymic carcinoma
Source Database
CIViC Evidence
Description
In a patient with thymic carcinoma, the tumor expressing an activating mutation in exon 11 of KIT (V560del) was sensitive to imatinib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/486
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/202
Rating
5
Evidence Type
Predictive
Disease
Thymic Carcinoma
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
15201427
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue