Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Gly309Ala (p.G309A) ( ENST00000445658.6, ENST00000406381.6, ENST00000584450.5, ENST00000584601.5, ENST00000269571.10, ENST00000578199.5, ENST00000541774.5 )
ERBB2 p.Gly309Ala (p.G309A) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000578199.5, ENST00000584450.5, ENST00000584601.5 )
Associated Disease
breast cancer
Source Database
CIViC Evidence
Description
In MCF10A cell lines, the G309A mutation was shown to be sensitive to neratinib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/282
Gene URL
https://civic.genome.wustl.edu/links/genes/20
Variant URL
https://civic.genome.wustl.edu/links/variants/38
Rating
5
Evidence Type
Predictive
Disease
Breast Cancer
Evidence Direction
Supports
Drug
Neratinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
23220880
Drugs
Drug NameSensitivitySupported
NeratinibSensitivitytrue