Header logo

ERBB2 (p.S310Y)

Variant Data

Location

  • HGVS: ENST00000269571:c.929C>A
  • Reference Version: GRCh37
  • Chromosome: 17
  • Start: 37868208
  • Stop: 37868208
  • Strand: 1
  • Transcript: ENST00000269571 (ensembl - 74_37)
  • Gene: ERBB2 ( View drug interactions on DGIdb )

Information

  • Reference: C
  • Variant: A
  • Amino Acid: p.S310Y
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.929
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
cancer Greulich et al., 2012, Proc. Natl. Acad. Sci. U.S.A. Drug Gene Knowledge Database (View variants) likely pathogenic
urinary bladder urothelial carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
gastric adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
cervix carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
breast cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
ovarian serous cystadenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
skin squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
head and neck squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
colorectal cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
ERBB2 TKIs, trastuzumab activation gain-of-function preclinical emerging 22908275
Produced by The McDonnell Genome Institute at the Washington University School of Medicine

DoCM by The McDonnell Genome Institute at Washington University School of Medicine is licensed under a Creative Commons Attribution 4.0 International License. Questions? Comments? Concerns? You can contact us here.