ERBB2 I655V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(ERBB2 Ile655Val)

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Short summary

Associated with cardiac toxicity with trastuzumab.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr17:37879588: 16.8% (1802/10758) in EVS
  • G @ chr17:35133113: 8.5% (10/118) in GET-Evidence
  • Frequency shown in summary reports: 16.8% (1802/10758)


Matsuzawa D, Hashimoto K, Miyatake R, Shirayama Y, Shimizu E, Maeda K, Suzuki Y, Mashimo Y, Sekine Y, Inada T, Ozaki N, Iwata N, Harano M, Komiyama T, Yamada M, Sora I, Ujike H, Hata A, Sawa A, Iyo M. Identification of functional polymorphisms in the promoter region of the human PICK1 gene and their association with methamphetamine psychosis. Am J Psychiatry. 2007 Jul;164(7):1105-14. PubMed PMID: 17606663.



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr17:37879588


hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr17:37879588


Added in this revision:

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr17:37879588










Other external references

  • rs1136201
  • [Breast Neoplasms]
    Individuals carrying the Ile/Val or Val/Val genotype have increased risk for breast cancer.; PubMed ID:12846420; PubMed ID:15970791; PubM
  • [Breast Neoplasms; Drug Toxicity]
    This variant is associated with cardiotoxicity in breast cancer patients treated with trastuzumab. The presence of Val allele may be a risk factor for cardiac toxicity. The Val form is also more sensitive to trastuzamab in vitro.
  • Score: 0.18 (benign)

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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