IFNGR2 Q64R - 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:

IFNGR2 Q64R

(IFNGR2 Gln64Arg)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • G @ chr21:34787312: 16.9% (1821/10758) in EVS
  • G @ chr21:33709181: 25.8% (33/128) in GET-Evidence
  • Frequency shown in summary reports: 16.9% (1821/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr21:34787312

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr21:34787312

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr21:34787312

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr21:34787312

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr21:34787312

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr21:34787312

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr21:34787312

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom G @ chr21:34787312

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr21:34787312

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr21:34787312

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr21:34787312

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr21:34787312

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr21:34787312

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr21:33709182

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr21:33709182

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr21:33709182

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr21:33709182

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr21:33709182

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr21:33709182

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr21:33709182

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr21:33709182

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr21:33709182

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr21:33709182

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr21:33709182

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr21:33709182

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr21:33709182

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr21:33709182

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr21:33709182

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr21:33709182

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr21:33709182

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr21:33709182

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr21:33709182

 

Other external references
 

    dbSNP
  • rs9808753
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.004 (benign)
    Web search results (11 hits -- see all)
  • PatologiaMolecular.Net - Cytokine Gene Polymorphisms
    Molecular Pathology Laboratory at Botucatu School of Medicine - UNESP, Brazil. ... IFNGR2-01. rs9808753. Q64R. Ex2-16A>G. V. V. IFNGR2-02. rs12655. Ex7-141G>A. V. IFNGR2-03. rs1059293 ...
    patologiamolecular.fmb.unesp.br/index.php?...&id=53&Itemid=1
  • Carcinogenesis -- Purdue et al. 28 (3): 704 Table BL1
    Caspase activation and recruitment domain family, member 15 ... (H165R) rs1801274. IFNGR2. Interferon gamma receptor 2. 21q22.11. Ex2-16A>G (Q64R) rs9808753 ...
    carcin.oxfordjournals.org/cgi/content-nw/full/28/3/704/TBL1
  • Polymorphisms in Th1-type cell-mediated response genes and ...
    Table V Gastric cancer risk by haplotypes in TNFA, IL12 and IFNGR2 ... dThe order of SNPs in IFNGR2 is Ex2-34 C>G (T58R), Ex2-16 A>G (Q64R) and Ex7-128 T>C. ...
    carcin.oxfordjournals.org/cgi/content/full/28/1/118/TBL5
  • Common Variants in Immune and DNA Repair Genes and Risk for ...
    IFNGR2. Interferon gamma receptor 2 (interferon. transducer 1) 21q22.11 ... Q64R. 3'UTR. 3'UTR. T58R. rs9808753. rs12655. rs1059293. rs4986958. IFNG. Interferon, 12q14 ...
    proyectoguanacaste.com/files/.../WangS.pdf
  • α-Chlordane Levels in Carpet Dust
    IFNGR2. AA 426. 321. 0.6% (-0.2% - 1.3%) 0.12. 643. 530. 1.0 (ref) 1.1 (0.8-1.6) Q64R AG|GG. 165 ... α-Chlordane Levels in Carpet Dust. Termite Treatment Before 1988. Gene ...
    bloodjournal.hematologylibrary.org/cgi/data/.../DC1/4
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... kinase 2 rs9808753*Q64R rs9826308*MOX2R NM_138806 NP_620161(cell surface ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Cancer Research -- Wang et al. 66 (19): 9771 Table BL1
    0.0001-0.001. Renal transplant, Sjogren's, RA. 1-17. C-889T (Ex1+12C>T) ... IFNGR2. IFN, receptor 2. 21q22.1-q22.2. Q64R (Ex2–16A>G) rs9808753. 0.001 ...
    cancerres.aacrjournals.org/cgi/content-nw/full/.../9771/TBL1
  • Organochlorine exposure, immune gene variation, and risk of ...
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National ... IFNGR2. Interferon. receptor 2. 21q22.1-q22.2. Q64R (Ex2 16A G) rs9808753 ...
    bloodjournal.hematologylibrary.org/cgi/reprint/.../1899.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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