IL12RB1 Q214R - GET-Evidence

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

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Curation:
Currentness:

IL12RB1 Q214R

(IL12RB1 Gln214Arg)


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

  • C @ chr19:18186618: 25.1% (2698/10758) in EVS
  • C @ chr19:18047617: 28.1% (36/128) in GET-Evidence
  • Frequency shown in summary reports: 25.1% (2698/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr19:18186618

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr19:18186618

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr19:18186618

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr19:18186618

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr19:18186618

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr19:18186618

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr19:18186618

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom C @ chr19:18186618

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr19:18186618

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr19:18186618

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr19:18186618

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr19:18186618

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr19:18186618

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr19:18186618

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr19:18186618

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr19:18186618

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr19:18186618

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom C @ chr19:18186618

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr19:18186618

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr19:18186618

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr19:18186618

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr19:18186618

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr19:18186618

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom C @ chr19:18186618

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr19:18186618

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr19:18186618

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr19:18047618

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr19:18047618

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr19:18047618

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr19:18047618

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr19:18047618

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr19:18047618

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr19:18047618

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr19:18047618

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr19:18047618

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr19:18047618

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr19:18047618

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr19:18047618

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr19:18047618

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr19:18047618

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr19:18047618

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr19:18047618

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr19:18047618

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr19:18047618

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr19:18047618

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr19:18047618

 

Other external references
 

    dbSNP
  • rs11575934
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (43 hits -- see all)
  • IL12RB1
    Scientific Experts, Genomes and Genes, Publications, Research Grants, Webpages, Research Topics about IL12RB1
    www.labome.org/gene/human/il12rb1-3594.html
  • Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and ...
    Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus ...
    rheumatology.oxfordjournals.org/cgi/content/full/44/9/1136
  • Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and ...
    receptor beta 1 (IL12RB1) gene polymorphisms with systemic lupus ... in IL12RB1 (641A!G, 1094T!C and 1132G!C), causing three missense variants (Q214R, M365T, ...
    rheumatology.oxfordjournals.org/cgi/reprint/44/9/1136.pdf
  • Blood -- Missense mutation of the interleukin-12 receptor ...
    The Q214R substitution is reportedly linked to IL-12R1 deficiency; however, the ... Association of the IL12RB1 promoter polymorphisms with increased risk of atopic ...
    bloodjournal.hematologylibrary.org/cgi/content/.../97/9/2688
  • Association of IL12RB1 promoter polymorphisms with increased ...
    variants of the human IL12RB1 in Japanese subjects, and identified 48 genetic ... Deletion analysis of the IL12RB1 promoter suggested that the –265 to ...
    hmg.oxfordjournals.org/cgi/reprint/ddi347v1.pdf
  • Association of the IL12RB1 promoter polymorphisms with ...
    Deletion analysis of the IL12RB1. promoter suggested that the 2265 to 2104 region that ... IL12RB1 mRNA levels than those from 2111T allele carriers. ...
    hmg.oxfordjournals.org/cgi/reprint/14/21/3149.pdf
  • Blood -- Missense mutation of the interleukin-12 receptor ...
    The Q214R substitution is reportedly linked to IL-12R1 deficiency; however, the ... and homozygous for Arg-214, respectively, suggesting that the Q214R substitution ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../2688
  • CURRENT LITERATURE
    International Journal of Leprosy and Other Mycobacterial Diseases: Vol. 71, No. ... This department carries selected abstracts of articles published in current ...
    www.leprosy-ila.org/leprosyjournal/html/71-3/71-3-13.php
  • TUBERCULOSIS
    Anuradha S, Ravinder Kaur, Singh NP, Baveja UK. Serodiagnosis of extra pulmonary ... because of the low yield of culture positivity for Mycobacterium ...
    jbtdrc.org/Sevamed_2003/.../Abs/Abs_Tuberculosis.htm
  • IL-12 RB1 Genetic Variants Contribute to Human Susceptibility ...
    Genotype Frequencies of the 4 SNPs of the IL12RB1 gene in SARS Patients and Controls ... database dbSNP, out of a total of 274 known human SNPs for IL12RB1, however, ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2367437

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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