GBE1 R190G - GET-Evidence

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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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

GBE1 R190G

(GBE1 Arg190Gly)


Short summary

 

Variant evidence
Computational 2

PolyPhen: Benign, score 0.003
SIFT: Affect protein function 0.02
GVGD: GV 26.00; GD 120.17; Class C45
Variant Effect Predictor (Ensembl ):
SIFT=deleterious(0.04);
PolyPhen=benign(0.003);
Condel=deleterious(0.912)
Mutation Tasting Prediction: Polymorphism, P value: 0.501880; protein features (might be) affected.

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

  • C @ chr3:81698130: 29.2% (2750/9410) in EVS
  • C @ chr3:81780819: 26.6% (34/128) in GET-Evidence
  • Frequency shown in summary reports: 29.2% (2750/9410)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr3:81698130

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr3:81698130

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr3:81698130

 

hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants
het C @ chr3:81780820

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr3:81698130

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
het C @ chr3:81780820

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome
het C @ chr3:81698130

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr3:81698130

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
hom C @ chr3:81780820

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr3:81698130

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr3:81698130

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr3:81698130

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr3:81698130

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr3:81698130

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr3:81698130

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr3:81698130

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr3:81780820

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr3:81780820

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr3:81780820

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr3:81780820

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr3:81780820

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr3:81780820

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr3:81780820

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr3:81780820

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr3:81780820

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr3:81780820

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr3:81780820

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr3:81780820

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr3:81780820

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr3:81780820

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr3:81780820

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr3:81780820

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr3:81780820

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr3:81780820

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr3:81780820

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr3:81780820

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr3:81780820

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr3:81780820

 

Other external references
 

    dbSNP
  • rs2229519
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the GBE1 gene
    Adult Polyglucosan Body Disease
    GBE1-Related Disorders
    Glycogen Storage Disease Type IV
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GBE1
    PolyPhen-2
  • Score: 0.025 (benign)
    Web search results (15 hits -- see all)
  • SNPs Identified in GBE1
    R190G. A/G. G4369a15. 420. chr3:81640977. Silent. view. Y114Y. C/T. G4369a14. chr3:81641122 ... Candidate Gene List > GBE1 Main Page > SNPs Identified in GBE1 ...
    cardiogenomics.med.harvard.edu/.../GBE1_validated_SNPs.html
  • BMC Bioinformatics
    Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge ... GBE1. 1,4-alpha-glucan branching enzyme. rs2305246. R190G. 35. ENSG00000104901. DKKL1. Dickkopf ...
    www.biomedcentral.com/content/pdf/1471-2105-8-301.pdf
  • Genome bioinformatic analysis of nonsynonymous SNPs
    Department of Biochemistry, University of Cambridge, 80 Tennis Court ... GBE1. 1,4-alpha-glucan branching enzyme. rs2305246. R190G. 35. ENSG00000104901. DKKL1. Dickkopf ...
    biomedcentral.com/content/download/xml/1471-2105-8-301.xml
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • SNPs Identified in GBE1
    R190G. A/G. G4369a9. 21. chr3:81731626. 5' UTR. view. G/A. Download a spreadsheet containing this ... Candidate Gene List > GBE1 Main Page > SNPs Identified in GBE1 ...
    cardiogenomics.med.harvard.edu/.../GBE1_validated_SNPs.html

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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