RAG1 K820R - 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:

RAG1 K820R

(RAG1 Lys820Arg)


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 @ chr11:36597313: 11.0% (1186/10758) in EVS
  • G @ chr11:36553888: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 11.0% (1186/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr11:36597313

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr11:36597313

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr11:36597313

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr11:36597313

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr11:36597313

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr11:36597313

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr11:36597313

 

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr11:36597313

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr11:36597313

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr11:36597313

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr11:36553889

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr11:36553889

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr11:36553889

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr11:36553889

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr11:36553889

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr11:36553889

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr11:36553889

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr11:36553889

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr11:36553889

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr11:36553889

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr11:36553889

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr11:36553889

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr11:36553889

 

Other external references
 

    dbSNP
  • rs2227973
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.014 (benign)
    Web search results (30 hits -- see all)
  • Blood -- RAG1 and BRCA2 polymorphisms in non-Hodgkin lymphoma
    RAG1 and BRCA2 polymorphisms in non-Hodgkin lymphoma. To the editor: ... Among our control population, RAG1 K820R and BRCA2 N372H were in Hardy-Weinberg ...
    bloodjournal.hematologylibrary.org/cgi/.../109/12/5522?rss=1
  • Correspondence: NHL and genomic variability in RAG1 and BRCA2
    Correspondence. NHL and genomic variability in RAG1 and BRCA2 ... issue of Blood, the authors failed to identify an association between RAG1 K820R ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1890837
  • Blood -- NHL and genomic variability in RAG1 and BRCA2
    NHL and genomic variability in RAG1 and BRCA2. Response: In the letter by Scott and ... the authors failed to identify an association between RAG1 K820R ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../5523
  • Characterization of immune function and analysis of RAG gene ...
    A K820R substitution resulting from A2571G in RAG1 was identified in ... in both of the sibling cases, and no other mutation was found in their RAG1 gene. ...
    www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1905546
  • Characterization of immune function and analysis of RAG gene ...
    We found no mutation in RAG genes except for a K820R substitution in RAG1, which was regarded to be a functional polymorphism, in two of these cases. ...
    www3.interscience.wiley.com/journal/119033485/abstract
  • Genetic polymorphisms in double-strand break DNA repair genes ...
    Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Unit 1340, 1515 Holcombe ... BRCA2 N372H, XRCC3 T241M, RAG1. K820R and LIG4 T91I), one intronic ...
    ecco-org.eu/...?type=doc/Genetic_polymorphisms.pdf
  • Carcinogenesis -- Purdue et al. 28 (3): 704 Table BL1
    Caspase activation and recruitment domain family, member 15 ... RAG1. Recombination activating gene 1. 11p13. Ex2+2473A>G (K820R) rs2227973. TGFB1 ...
    carcin.oxfordjournals.org/cgi/content-nw/full/28/3/704/TBL1
  • Bladder Cancer Predisposition: A Multigenic Approach to DNA ...
    only XPD Asp312Asn, RAG1 Lys820Arg, and a p53 intronic SNP exhibited ... ADPRT V762A, ATM D1853N, and RAG1 K820R. These three genes are involved in DSB and BER ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Genetics in the 3rd Millennium
    اين بيماري به‌دليل ايجاد جهش در ژن‌هاي RAG1، RAG2، JAK3، ARTEMIS، CD45 و IL7R ايجاد مي‌شود. ... و E136K) و سه جهش در ژن RAG1 (K820R، W896X و H249R) شد كه دو مورد ...
    www.g3m.ir/xml_out.php?mag_id=5
  • 5427.html
    1Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, ... G308A, IL10 T3575A, FCGR2A H165R, RAG1 K820R, and LIG4 Thr9Ile) previously found to be ...
    www.ibp.cz/labs/LC/files/AACR_07/files/5427.html

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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