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.

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



(ABCG2 Val12Met)

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 @ 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)


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.









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

  • rs2231137
  • [lamivudine]
    control size=7; M12 cases=6; PK=in healthy subjects, disposition of lamivudine was not significantly influenced by known functional variants
  • Score: 0 (benign)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in