ABCC1 G671V - GET-Evidence

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

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(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.


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PubMed PMID: 16330681


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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":

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