ABCC1 G671V - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!



(ABCC1 Gly671Val)

Short summary


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


Insufficiently evaluated pharmacogenetic

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

Inheritance pattern


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)


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.




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

  • rs45511401
  • [Coronary Artery Disease; Hypercholesterolemia]
    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
  • [Arrhythmias, Cardiac; Cardiomyopathies; Drug Toxicity; Lymphoma, Non-Hodgkin]
    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.
  • [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

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in