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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Curation:
Currentness:

BANK1 A383T

(BANK1 Ala383Thr)


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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 @ chr4:102839287: 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)

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
 

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
 

    dbSNP
  • rs3733197
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Lupus Erythematosus, Systemic]
    This variant was associated with systemic lupus erythematosus in a genome-wide scan.
    www.ncbi.nlm.nih.gov/pubmed/18204447
    PolyPhen-2
  • 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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