BANK1 R61H - GET-Evidence

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

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(BANK1 Arg61His)

You are viewing an old version of this page that was saved on September 16, 2010 at 5:01pm by Madeleine Ball.

Short summary


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


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)


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.


Added in this revision:

Chang YK, Yang W, Zhao M, Mok CC, Chan TM, Wong RW, Lee KW, Mok MY, Wong SN, Ng IO, Lee TL, Ho MH, Lee PP, Wong WH, Lau CS, Sham PC, Lau YL. Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun. 2009 Jul;10(5):414-20. Epub 2009 Apr 9. PubMed PMID: 19357697; PubMed Central PMCID: PMC2834352.





huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom 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


















Other external references

  • rs10516487
  • 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
  • [Lupus Erythematosus, Systemic]
    In a genome-wide scan an association between systemic lupus erythematosus and this nonsynonymous SNP in the BANK1 gene was identified.
  • [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).; Web Resource:
  • 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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