CBR3 V244M - GET-Evidence

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

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Curation:
Currentness:

CBR3 V244M

(CBR3 Val244Met)


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 @ chr21:37518706: 40.0% (4307/10758) in EVS
  • A @ chr21:36440575: 35.2% (45/128) in GET-Evidence
  • Frequency shown in summary reports: 40.0% (4307/10758)

Publications
 

Blanco JG, Leisenring WM, Gonzalez-Covarrubias VM, Kawashima TI, Davies SM, Relling MV, Robison LL, Sklar CA, Stovall M, Bhatia S. Genetic polymorphisms in the carbonyl reductase 3 gene CBR3 and the NAD(P)H:quinone oxidoreductase 1 gene NQO1 in patients who developed anthracycline-related congestive heart failure after childhood cancer. Cancer. 2008 Jun 15;112(12):2789-95. PubMed PMID: 18457324.

 

Fan L, Goh BC, Wong CI, Sukri N, Lim SE, Tan SH, Guo JY, Lim R, Yap HL, Khoo YM, Iau P, Lee HS, Lee SC. Genotype of human carbonyl reductase CBR3 correlates with doxorubicin disposition and toxicity. Pharmacogenet Genomics. 2008 Jul;18(7):621-31. PubMed PMID: 18551042.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr21:37518706

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr21:37518706

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr21:37518706

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr21:37518706

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr21:37518706

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr21:37518706

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr21:37518706

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr21:37518706

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr21:37518706

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom A @ chr21:37518706

 

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom A @ chr21:37518706

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom A @ chr21:37518706

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr21:37518706

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr21:37518706

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom A @ chr21:37518706

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr21:37518706

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom A @ chr21:37518706

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr21:37518706

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr21:37518706

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr21:37518706

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom A @ chr21:37518706

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr21:37518706

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr21:36440576

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr21:36440576

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr21:36440576

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr21:36440576

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr21:36440576

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr21:36440576

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr21:36440576

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr21:36440576

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr21:36440576

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr21:36440576

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr21:36440576

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr21:36440576

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr21:36440576

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr21:36440576

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr21:36440576

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr21:36440576

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr21:36440576

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr21:36440576

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr21:36440576

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr21:36440576

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr21:36440576

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr21:36440576

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr21:36440576

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr21:36440576

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chr21:36440576

 

Other external references
 

    dbSNP
  • rs1056892
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Breast Neoplasms; Drug Toxicity]
    [doxorubicin]
    Risk or phenotype-associated allele: A. Phenotype: CBR3 730G>A was associated with higher doxorubicinol AUC and CBR3 expression in breast tumor tissue. Study size: 101 Study population/ethnicity: Asian; patients with Breast Neoplasms; Chinese; Malay; Indian Significance metric(s): p = 0.009 (AUC); p = 0.001 (expression) Type of association: PK; TOX
    www.ncbi.nlm.nih.gov/pubmed/18551042
  • [Cardiomyopathies; Drug Toxicity; Heart Failure]
    Risk or phenotype-associated allele: G. Phenotype: There was a trend toward an association between the CBR3 V244M polymorphism and the risk of CHF. Study size: 145. Study population/ethnicity: Nested case-control study was conducted within a cohort of 1979 patients enrolled in the Childhood Cancer Survivor Study who received treatment with anthracyclines and had available DNA. Significance metric(s): OR = 8.16, p = 0.056 (G/G vs A/A); OR = 5.44, p = 0.092 (G/A vs A/A). Type of association: CO; TOX; ADR.
    www.ncbi.nlm.nih.gov/pubmed/18457324
    PolyPhen-2
  • Score: 0.014 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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