Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Ala289Val (p.A289V) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000420316.6, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Ala289Val (p.A289V) ( ENST00000275493.7, ENST00000342916.7, ENST00000420316.6, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
high grade glioma
Source Database
CIViC Evidence
Description
In an in vitro study, a Ba/F3 cell line expressing EGFR A289V demonstrated increased sensitivity to erlotinib treatment, compared to Ba/F3 cells expressing EGFR wild-type. Variant function was assessed by EGFR auto-phosphorylation. Sensitivity was assessed by cell viability assay using stable transfection of each variant and increasing concentrations of erlotinib (0–10 uM).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4188
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/996
Rating
3
Evidence Type
Predictive
Disease
Malignant Glioma
Evidence Direction
Supports
Drug
Erlotinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
17177598
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivitytrue