Annotation Detail

Information
Associated Genes
PDGFRA
Associated Variants
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V) ( ENST00000257290.10 )
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V) ( ENST00000257290.10 )
Associated Disease
cancer
Source Database
CIViC Evidence
Description
In an in vitro study, Chinese hamster ovary cells expressing PDGFRA D842V mutation demonstrated reduced sensitivity to sunitinib treatment (IC50>1000 vs. IC50<100), compared to Chinese hamster ovary cells expressing wild-type PDGFRA. Sensitivity was determined by assessing PDGFRA auto-phosphorylation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4060
Gene URL
https://civic.genome.wustl.edu/links/genes/38
Variant URL
https://civic.genome.wustl.edu/links/variants/99
Rating
2
Evidence Type
Predictive
Disease
Cancer
Evidence Direction
Supports
Drug
Sunitinib
Evidence Level
D
Clinical Significance
Resistance
Pubmed
18955458
Drugs
Drug NameSensitivitySupported
SunitinibResitance or Non-Reponsetrue