Annotation Detail

Information
Associated Genes
ALK
Associated Variants
ALK p.Phe1174Leu (p.F1174L) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 )
ALK p.Phe1174Leu (p.F1174L) ( ENST00000618119.4, ENST00000642122.1, ENST00000389048.8 )
Associated Disease
neuroblastoma
Source Database
CIViC Evidence
Description
SH-SY5Y and Kelly cells with mutant ALK (F1174L) and Ba/F3 cells overexpressing ALK harboring the F1174L mutation are sensitive to TAE684-mediated growth inhibition.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/142
Gene URL
https://civic.genome.wustl.edu/links/genes/1
Variant URL
https://civic.genome.wustl.edu/links/variants/8
Rating
4
Evidence Type
Predictive
Disease
Neuroblastoma
Evidence Direction
Supports
Drug
TAE684
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
18923525
Drugs
Drug NameSensitivitySupported
TAE684Sensitivitytrue