Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Gly719Ser (p.G719S) ( ENST00000275493.7, ENST00000455089.5, ENST00000450046.2 )
EGFR p.Gly719Ser (p.G719S) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
In an in vitro study, a Ba/F3 cell line expressing EGFR G719S demonstrated increased sensitivity to erlotinib treatment comparable to Ba/F3 cells expressing a known sensitizing mutation (EGFR L858R). Sensitivity was determined by assessing cell proliferation, the IC50 of erlotinib for EGFR G719S and EGFR L858R expressing cells were 16 nmol/L and 6 nmol/L, respectively.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4190
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/134
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Erlotinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
19147750
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivitytrue