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ERBB2 S310F
GeneERBB2
Variantmissense
Amino Acid ChangeS310F
DNA Change (Coding Nucleotide)929C>T
Transcript ID (GRCh37/hg19)ENST00000269571
Codon310
Exon8
Genomic Coordinates (GRCh37/hg19)17:37868208-37868208
COSMIC ID48358
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 1
ERBB2
Variants
ERBB2 S310F
ERBB2 S310Y
ERBB2 R157W
Primary Sites
Breast
Lung
Bladder
Ureter
Kidney
Tumor Types
Adenocarcinoma
Urothelial Carcinoma
Interpretation

Activating extracellular domain ERBB2 mutations (S310F, S310Y, R157W) have been identified in urothelial carcinoma (enriched in micropapillary variant) and adenocarcinomas of breast and lung. These activating mutations may have therapeutic potential in some clinical settings.

Last updated: 2017-01-20 03:28:23 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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