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ERBB2 I767M
GeneERBB2
Variantmissense
Amino Acid ChangeI767M
Transcript ID (GRCh37/hg19)ENST00000269571
Codon767
Exon19
Genomic Coordinates (GRCh37/hg19)17:37880257-37880257
COSMIC ID51317
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 2
ERBB2
Variants
ERBB2 I767M
Primary Sites
Bladder
Tumor Types
Urothelial Carcinoma
Interpretation

ERBB2 encodes HER2, a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. ERBB2 mutations have been reported in ~12% of urothelial carcinomas. This particular variant I767M lies within the protein kinase domain of HER2 and has been shown to result in increased kinase activity in vitro. This variant has been identified in rare cases of urothelial carcinomas, among other cancer types, and is considered to be oncogenic. Further studies are needed to elucidate the role of anti-HER2 therapy in this setting. Clinical correlation is recommended.

Last updated: 2018-10-11 18:59:50 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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