ERBB2 I655V - GET-Evidence

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

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Currentness:

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ERBB2 I655V

(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 -
 

Impact

Insufficiently evaluated pharmacogenetic

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

Inheritance pattern

unknown

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)

Publications
 

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.

 

Genomes
 

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

 

 

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

 

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

 

Added in this revision:

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom G @ chr17:37879588

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr17:35133114

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr17:35133114

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr17:35133114

 

Other external references
 

    dbSNP
  • rs1136201
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Breast Neoplasms]
    Individuals carrying the Ile/Val or Val/Val genotype have increased risk for breast cancer.
    www.ncbi.nlm.nih.gov/pubmed/10699071; PubMed ID:12846420; PubMed ID:15970791; PubM
  • [Breast Neoplasms; Drug Toxicity]
    [trastuzumab]
    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.
    www.ncbi.nlm.nih.gov/pubmed/17606663
    PolyPhen-2
  • 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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