ABCC2 C1515Y - GET-Evidence

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

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Curation:
Currentness:

ABCC2 C1515Y

(ABCC2 Cys1515Tyr)


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 @ chr10:101611294: 9.6% (1033/10758) in EVS
  • A @ chr10:101601283: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 9.6% (1033/10758)

Publications
 

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.

 

Elens L, Yombi JC, Lison D, Wallemacq P, Vandercam B, Haufroid V. Association between ABCC2 polymorphism and lopinavir accumulation in peripheral blood mononuclear cells of HIV-infected patients. Pharmacogenomics. 2009 Oct;10(10):1589-97. PubMed PMID: 19842932.

 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr10:101611294

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr10:101611294

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr10:101611294

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr10:101611294

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr10:101611294

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr10:101611294

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr10:101611294

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr10:101601284

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr10:101601284

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr10:101601284

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr10:101601284

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr10:101601284

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr10:101601284

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr10:101601284

 

Other external references
 

    dbSNP
  • rs8187710
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [HIV Infections]
    [lopinavir]
    Risk or phenotype-associated allele: A. Phenotype: This SNP in ABCC2 was associated with a higher accumulation of lopinavir in peripheral blood mononuclear cells of HIV-treated patients. Study size: 53. Type of association: GN.
    www.ncbi.nlm.nih.gov/pubmed/19842932
  • [Arrhythmias, Cardiac; Cardiomyopathies; Drug Toxicity; Lymphoma, Non-Hodgkin]
    [doxorubicin]
    Risk or phenotype-associated allele: A. Phenotype: This SNP was part of a haplotype 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 = 2.3; 95% CI, 1.0 to 5.4. Type of association: PD; ADR; TOX.
    www.ncbi.nlm.nih.gov/pubmed/16330681
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (26 hits -- see all)
  • Increased susceptibility for intrahepatic cholestasis of ...
    ABCC2 : 3563T>A V1188E and 4544G>A C1515Y) with intrahepatic cholestasis of pregnancy ... non-synonymous ABCC2. polymorphisms (V1188E and C1515Y) showed signifi ...
    www.wjgnet.com/1007-9327/14/38.pdf
  • Brand-new projects
    Grupo español para el estudio de las hepatopatías asociadas a medicamentos ... T/A), ABCB11 (1331T>C (V444A)) y ABCC2 (4581G>A(C1515Y), -24C>T,4544G>A,1249G>A (Val417le) ...
    spanishdili.uma.es/index.php?...&id=93&Itemid=79&lang=en
  • Increased susceptibility for intrahepatic cholestasis of ...
    METHODS: ABCB11 and ABCC2 genotyping data were available from four CIC patients ... induced cholestasis, whereas no such association was found for ABCC2. ...
    www.ncbi.nlm.nih.gov/pubmed/18176959
  • Pharma DMET - SNPedia
    ... noncore snp ABCC2 ABCC2_(HCV27864927) noncore snp ABCC2 ABCC2_ ... (N1509N) noncore snp rs8187709 ABCC2 ABCC2_68693G>A(C1515Y) ABCC2_68693G>A(C1515Y) noncore snp rs8187710 ABCC3 ...
    www.snpedia.com/index.php/Pharma_DMET
  • World J Gastroenterol
    METHODS: ABCB11 and ABCC2 genotyping data were available from four CIC patients ... induced cholestasis, whereas no such association was found for ABCC2. ...
    www.wjgnet.com/1007-9327/abstract_en.asp?f=38&v=14
  • AceView: Gene:ABCC2, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=ABCC2
  • Scientific Commons: Roland Zimmermann
    The coherent potential approximation (CPA) is extended to describe satisfactorily the ... ABCC2: 3563T>A V1188E and 4544G>A C1515Y) with intrahepatic cholestasis of ...
    de.scientificcommons.org/roland_zimmermann
  • Idaho Technology Inc. - LightScanner Assays for Hi-Res Melting
    Idaho Technology Inc, based in Salt Lake City, Utah, is the originator of rapid DNA analysis with applications including DNA amplification, real-time PCR and mutation ...
    www.idahotec.com/LightScanner/LSAssays.html

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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