BANK1 A383T - 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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(BANK1 Ala383Thr)

Short summary


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


Insufficiently evaluated pharmacogenetic

(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 @ chr4:102839287: 29.5% (3177/10756) in EVS
  • A @ chr4:103058309: 25.8% (32/124) in GET-Evidence
  • Frequency shown in summary reports: 29.5% (3177/10756)


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.



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr4:102839287


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr4:102839287


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr4:102839287



hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr4:102839287





hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr4:102839287


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr4:102839287


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr4:102839287



hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom A @ chr4:102839287


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr4:102839287


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr4:102839287


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr4:102839287


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr4:102839287


huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr4:102839287


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr4:102839287


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom A @ chr4:102839287


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr4:102839287


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr4:102839287


GS12004 - var-GS12004-1100-36-ASM
hom A @ chr4:103058310


GS18502 - var-GS18502-1100-36-ASM
hom A @ chr4:103058310


GS18505 - var-GS18505-1100-36-ASM
het A @ chr4:103058310


GS18517 - var-GS18517-1100-36-ASM
het A @ chr4:103058310


GS18526 - var-GS18526-1100-36-ASM
het A @ chr4:103058310


GS18558 - var-GS18558-1100-36-ASM
het A @ chr4:103058310


GS18940 - var-GS18940-1100-36-ASM
het A @ chr4:103058310


GS18942 - var-GS18942-1100-36-ASM
het A @ chr4:103058310


GS19026 - var-GS19026-1100-36-ASM
het A @ chr4:103058310


GS19239 - var-GS19239-1100-36-ASM
het A @ chr4:103058310


GS19240 - var-GS19240-1100-36-ASM
het A @ chr4:103058310


GS19703 - var-GS19703-1100-36-ASM
het A @ chr4:103058310


GS19735 - var-GS19735-1100-36-ASM
het A @ chr4:103058310


GS19834 - var-GS19834-1100-36-ASM
het A @ chr4:103058310


GS20502 - var-GS20502-1100-36-ASM
het A @ chr4:103058310


GS20509 - var-GS20509-1100-36-ASM
het A @ chr4:103058310


GS21767 - var-GS21767-1100-36-ASM
hom A @ chr4:103058310


Other external references

  • rs3733197
  • [Lupus Erythematosus, Systemic]
    This variant was associated with systemic lupus erythematosus in a genome-wide scan.
  • Score: 0.778 (possibly damaging)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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