Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Gly778_Pro780dup (p.G778_P780dup) ( ENST00000584450.5, ENST00000406381.6, ENST00000584601.5, ENST00000541774.5, ENST00000269571.10, ENST00000445658.6 )
ERBB2 p.Gly778_Pro780dup (p.G778_P780dup) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
Associated Disease
breast cancer
Source Database
CIViC Evidence
Description
In MCF10A cell lines, the in-frame insertion of a single amino acid at position 780 was shown to be sensitive to neratinib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/285
Gene URL
https://civic.genome.wustl.edu/links/genes/20
Variant URL
https://civic.genome.wustl.edu/links/variants/41
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