BANK1 R61H - GET-Evidence

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

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Curation:
Currentness:

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BANK1 R61H

(BANK1 Arg61His)


You are viewing an old version of this page that was saved on November 29, 2012 at 2:33am by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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 @ chr4:102751076: 28.3% (3049/10758) in EVS
  • A @ chr4:102970098: 27.3% (35/128) in GET-Evidence
  • Frequency shown in summary reports: 28.3% (3049/10758)

Publications
 

Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Pons-Estel BA, Witte T, D'Alfonso S, Barizzone N, Danieli MG, Gutierrez C, Suarez A, Junker P, Laustrup H, González-Escribano MF, Martin J, Abderrahim H, Alarcón-Riquelme ME. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet. 2008 Feb;40(2):211-6. Epub 2008 Jan 20. Erratum in: Nat Genet. 2008 Apr;40(4):484. Barrizzone, Nadia [corrected to Barizzone, Nadia]. PubMed PMID: 18204447.

 

Genomes
 

hu034DB1

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr4:102751076

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr4:102751076

 

Added in this revision:

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr4:102751076

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr4:102751076

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr4:102751076

 

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr4:102970099

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr4:102970099

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr4:102970099

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr4:102970099

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr4:102970099

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr4:102970099

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr4:102970099

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr4:102970099

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr4:102970099

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr4:102970099

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr4:102970099

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr4:102970099

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr4:102970099

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr4:102970099

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr4:102970099

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr4:102970099

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr4:102970099

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr4:102970099

 

Other external references
 

    dbSNP
  • rs10516487
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GWAS
  • Systemic lupus erythematosus (rs10516487-G)
    Kozyrev 20-Jan-08 in Nat Genet
    OR or beta: 1.38 [1.25-1.53]
    Risk allele frequency: 0.77
    p-value: 4.00E-10
    Initial sample: 279 cases, 515 controls
    Replication sample: 1,757 cases, 1,540 controls
    www.ncbi.nlm.nih.gov/pubmed/18204447
    PharmGKB
  • [Lupus Erythematosus, Systemic]
    In a genome-wide scan an association between systemic lupus erythematosus and this nonsynonymous SNP in the BANK1 gene was identified.
    www.ncbi.nlm.nih.gov/pubmed/18204447
  • [Lupus erythematosus; Lupus Erythematosus, Systemic]
    GWAS Results: Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus (Initial Sample Size: 279 cases, 515 controls; Replication Sample Size: 1,757 cases, 1,540 controls; Risk Allele: rs10516487-G).
    www.ncbi.nlm.nih.gov/pubmed/18204447; Web Resource:http://www.genome.gov/gwastudie
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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