CYP4B1 R173W - 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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CYP4B1 R173W

(CYP4B1 Arg173Trp)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:45am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 3

PolyPhen2: Probably damaging 0.931
SIFT: Affect protein function 0.03
GVGD: GV 189.93; GD 58.74; Class C0
Variant Effect Predictor (Ensembl):
SIFT=deleterious(0.01);
PolyPhen=probably_damaging(0.931);
Condel=deleterious(0.961)
Mutation Tasting Prediction: Polymorphism, P value: 0.981070; protein features (might be) affected.

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

  • T @ chr1:47279175: 14.9% (1598/10758) in EVS
  • T @ chr1:47051761: 14.1% (18/128) in GET-Evidence
  • Frequency shown in summary reports: 14.9% (1598/10758)

Publications
 

Deeken JF, Cormier T, Price DK, Sissung TM, Steinberg SM, Tran K, Liewehr DJ, Dahut WL, Miao X, Figg WD. A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform. Pharmacogenomics J. 2009 Dec 29. [Epub ahead of print] PubMed PMID: 20038957.

 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr1:47279175

 

 

Added in this revision:

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr1:47279175

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr1:47279175

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr1:47279175

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr1:47051762

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr1:47051762

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:47051762

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr1:47051762

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr1:47051762

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr1:47051762

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr1:47051762

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr1:47051762

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr1:47051762

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr1:47051762

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr1:47051762

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr1:47051762

 

NA12878

 

Other external references
 

    dbSNP
  • rs4646487
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Prostatic Neoplasms]
    [docetaxel; thalidomide]
    Risk or phenotype-associated allele: T Phenotype: The CYP4B1:rs4646487 T variant was associated with toxicity in response to docetaxel and thalidomide. Study size: 47 Study population/ethnicity: Patients diagnosed with castration-resistant prostate cancer enrolled in a randomized phase II clinical trial comparing docetaxel to docetaxel with thalidomide. Significance metric(s):p = 0.008 Type of association: CO; TOX
    www.ncbi.nlm.nih.gov/pubmed/20038957

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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