ABCC2 V1188E - 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!

Curation:
Currentness:

ABCC2 V1188E

(ABCC2 Val1188Glu)


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 @ chr10:101595996: 6.2% (667/10758) in EVS
  • A @ chr10:101585985: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 6.2% (667/10758)

Publications
 

301 Moved Permanently

Moved Permanently

The document has moved here.

PubMed PMID: 16330681

 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr10:101595996

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr10:101595996

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr10:101595996

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr10:101595996

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr10:101595996

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr10:101595996

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr10:101585986

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr10:101585986

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr10:101585986

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr10:101585986

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr10:101585986

 

Other external references
 

    dbSNP
  • rs17222723
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [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 (20 hits -- see all)
  • Increased susceptibility for intrahepatic cholestasis of ...
    Furthermore, two non-synonymous ABCC2. polymorphisms (V1188E and C1515Y) showed signifi ... ABCB11 and ABCC2 polymorphisms in a prospectively. recruited group of patients with ICP ...
    www.wjgnet.com/1007-9327/14/38.pdf
  • 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
    ... ABCC2 ABCC2_53395T>A(V1188E) ABCC2_53395T>A(V1188E) noncore snp rs17222723 ABCC2 ... ABCC2 ABCC2_62902C>T(L1370L) ABCC2_62902C>T(L1370L) noncore snp rs7899457 ABCC2 ...
    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
  • Scientific Commons: Roland Zimmermann
    AIM: To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T>C V444A; ABCC2: 3563T>A V1188E and 4544G>A C1515Y) ...
    de.scientificcommons.org/roland_zimmermann
  • 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
  • Table S1
    ABCC2. rs17222723. c.3563T>A. p.V1188E. GOF. Allele A associated with not ... ABCC2. rs8187710. c.4544G>A. p.C1515Y. ROF. Allele A associated with TDF induced renal ...
    files.chuv.ch/internet-docs/imu/imu_lubomirov2007_tables1...
  • (TXT 905 KB)
    ... 0 0 Homo sapiens C__27471650_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT ... 0 Homo sapiens C__25591743_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 A/T V1188E MIM:601107|PharmGKB:PA116 ...
    appliedbiosystems.com/cms/groups/portal/.../cms_055247.txt

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in