CYP2C9 R150H - GET-Evidence

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

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Curation:
Currentness:

CYP2C9 R150H

(CYP2C9 Arg150His)


Short summary

 

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

  • A @ chr10:96702066: 2.0% (218/10754) in EVS
  • A @ chr10:96692055: 2.4% (3/126) in GET-Evidence
  • Frequency shown in summary reports: 2.0% (218/10754)

Publications
 

Cavallari LH, Langaee TY, Momary KM, Shapiro NL, Nutescu EA, Coty WA, Viana MA, Patel SR, Johnson JA. Genetic and clinical predictors of warfarin dose requirements in African Americans. Clin Pharmacol Ther. 2010 Apr;87(4):459-64. Epub 2010 Jan 13. PubMed PMID: 20072124.

 

Genomes
 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr10:96702066

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr10:96692056

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr10:96692056

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr10:96692056

 

Other external references
 

    dbSNP
  • rs7900194
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Atrial Fibrillation; Pulmonary Embolism; Stroke; Venous Thrombosis]
    [warfarin]
    Phenotype: In African Americans patients, weekly warfarin dose requirements were lower in those with the CYP2C9*8 allele (34 (30-47) mg; P = 0.023) and the CYP2C9 *2, *3, *5, *6, or *11 allele (33(28-40 mg); P < 0.001) as compared with those with the CYP2C9*1/*1 genotype (43 (35-56) mg). Adding the *5,*6,*8 and *11 alleles to a model containing the *2 and *3 alleles plus the VKORC1 -1639 G>A allele (along with clinical variables) explained 36% vs. 30% of the variability in dose requirements. Study size: 226 . Study population/ethnicity: African-American . Type of association: PD;GN;CO
    www.ncbi.nlm.nih.gov/pubmed/20072124
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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