ABCC1 G671V - GET-Evidence

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

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Curation:
Currentness:

ABCC1 G671V

(ABCC1 Gly671Val)


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

  • T @ chr16:16173232: 4.4% (454/10416) in EVS
  • T @ chr16:16080732: 1.6% (2/126) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (454/10416)

Publications
 

Conrad S, Kauffmann HM, Ito K, Deeley RG, Cole SP, Schrenk D. Identification of human multidrug resistance protein 1 (MRP1) mutations and characterization of a G671V substitution. J Hum Genet. 2001;46(11):656-63. PubMed PMID: 11721885.

 

Wojnowski L, Kulle B, Schirmer M, Schlüter G, Schmidt A, Rosenberger A, Vonhof S, Bickeböller H, Toliat MR, Suk EK, Tzvetkov M, Kruger A, Seifert S, Kloess M, Hahn H, Loeffler M, Nürnberg P, Pfreundschuh M, Trümper L, Brockmöller J, Hasenfuss G. NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity. Circulation. 2005 Dec 13;112(24):3754-62. Epub 2005 Dec 5. PubMed PMID: 16330681.

 

Rebecchi IM, Rodrigues AC, Arazi SS, Genvigir FD, Willrich MA, Hirata MH, Soares SA, Bertolami MC, Faludi AA, Bernik MM, Dorea EL, Dagli ML, Avanzo JL, Hirata RD. ABCB1 and ABCC1 expression in peripheral mononuclear cells is influenced by gene polymorphisms and atorvastatin treatment. Biochem Pharmacol. 2009 Jan 1;77(1):66-75. Epub 2008 Sep 21. PubMed PMID: 18851956.

 

Genomes
 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr16:16173232

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr16:16173232

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr16:16173232

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr16:16173232

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr16:16173232

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr16:16173232

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr16:16173232

 

Other external references
 

    dbSNP
  • rs45511401
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Coronary Artery Disease; Hypercholesterolemia]
    [atorvastatin]
    Risk or phenotype-associated allele: 2012GT (671Gly/Val) genotype. Phenotype: Carriers the heterozygous 2012GT (671Gly/Val) genotype had lower serum HDL cholesterol than the GG (671Gly/Gly) genotype carriers (p = 0.015). Study size: 136. Study population/ethnicity: Hypercholesterolemic individuals, treated with atorvastatin (10mg/day/4 weeks), evaluated for CAD risk factors at the Institute Dante Pazzanese of Cardiology and the Hospital of the Sao Paulo University in Sao Paulo City, Brazil. Significance metric(s): p = 0.015. Type of association: GN; PD; FA
    www.ncbi.nlm.nih.gov/pubmed/18851956
  • [Arrhythmias, Cardiac; Cardiomyopathies; Drug Toxicity; Lymphoma, Non-Hodgkin]
    [doxorubicin]
    Risk or phenotype-associated allele: T. Phenotype: This SNP was associated with acute cardiotoxicity in response to doxorubicin. Study size: 1697. Study population/ethnicity: Participants of the German non-Hodgkin lymphoma study. Significance metric(s): OR = 3.6; 95% CI, 1.6 to 8.4. Type of association: PD; ADR; TOX.
    www.ncbi.nlm.nih.gov/pubmed/16330681
  • [estradiol; estrone]
    system: membrane vessicles from HEK cells transfected with WT and variant; FA: transport of leukotriene C4, 17beta-estradiol 17beta-(D)-glucuronide, and estrone sulfate were the same for WT and variant
    www.ncbi.nlm.nih.gov/pubmed/11721885

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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