Annotation Detail

Information
Associated Genes
ERBB3
Associated Variants
ERBB3 p.Val855Ala (p.V855A) ( ENST00000683164.1, ENST00000683018.1, ENST00000267101.8, ENST00000415288.6, ENST00000683059.1 )
ERBB3 p.Val855Ala (p.V855A) ( ENST00000267101.8, ENST00000415288.6, ENST00000683018.1, ENST00000683059.1, ENST00000683164.1 )
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
Case report on a novel V855A mutation located in exon 21 of the HER3 tyrosine kinase domain and found in the tumor specimen of an adolescent patient with a chemotherapy-resistant advanced NSCLC. Protein alignments indicated this mutation was analogous to EGFR-L858R and BRAF-L597V. Co-expression of wildtype HER2 and HER3-V855A in Ba/F3 cells led to sensitivity to afatinib and pertuzumab.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1845
Gene URL
https://civic.genome.wustl.edu/links/genes/1733
Variant URL
https://civic.genome.wustl.edu/links/variants/781
Rating
2
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Pertuzumab,Afatinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
26689995
Drugs
Drug NameSensitivitySupported
AfatinibSensitivitytrue
PertuzumabSensitivitytrue