Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Gly719Ala (p.G719A)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Gly719Ala (p.G719A) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- In a large retrospective study, EGFR exons 18-21 were assessed using direct sequencing in 753 French NSCLC cases. Clinical details and patient outcomes were taken, including whether the first generation TKIs erlotinib or gefitinib were administered. One patient was found to have a G719A mutation, was administered a TKI, and an NSCLC progression was observed.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6181
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/999
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Does Not Support
- Drug
- Gefitinib,Erlotinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 23749122