ABCG2 V12M - 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.

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Curation:
Currentness:

ABCG2 V12M

(ABCG2 Val12Met)


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 @ chr4:89061114: 4.5% (483/10758) in EVS
  • T @ chr4:89280137: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (483/10758)

Publications
 

Kim HS, Sunwoo YE, Ryu JY, Kang HJ, Jung HE, Song IS, Kim EY, Shim JC, Shon JH, Shin JG. The effect of ABCG2 V12M, Q141K and Q126X, known functional variants in vitro, on the disposition of lamivudine. Br J Clin Pharmacol. 2007 Nov;64(5):645-54. Epub 2007 May 17. PubMed PMID: 17509035; PubMed Central PMCID: PMC2203270.

 

Genomes
 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr4:89061114

 

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr4:89280138

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr4:89280138

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr4:89280138

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr4:89280138

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr4:89280138

 

GS21767 - var-GS21767-1100-36-ASM
hom T @ chr4:89280138

 

Other external references
 

    dbSNP
  • rs2231137
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [lamivudine]
    control size=7; M12 cases=6; PK=in healthy subjects, disposition of lamivudine was not significantly influenced by known functional variants
    www.ncbi.nlm.nih.gov/pubmed/17509035
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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