ERBB2 I655V - GET-Evidence

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

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Curation:
Currentness:

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ERBB2 I655V

(ERBB2 Ile655Val)


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Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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
 

Genomes
 

Added in this revision:

snp-18

 

Other external references
 

    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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