HLA-DQB1 S214N - 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.

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

Curation:
Currentness:

HLA-DQB1 S214N

(HLA-DQB1 Ser214Asn)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 0.16
GVGD:GV 46.24; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.1);
PolyPhen=benign(0);
Condel=deleterious(0.900)
Mutation Tasting Prediction: Polymorphism, P value: 0.999550; protein features (might be) affected (aa 33-230 TOPO_DOM Extracellular (Potential) gets lost; aa 127-220 REGION Beta-2 gets lost; aa 129-233 DOMAIN Ig-like C1-type gets lost)

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

  • T @ chr6:32629764: 33.6% (3604/10736) in EVS
  • T @ chr6:32737741: 1.5% (1/66) in GET-Evidence
  • Frequency shown in summary reports: 33.6% (3604/10736)

Publications
 

Genomes
 

 

hu34D5B9 - hu34D5B9 exome
hom T @ chr6:32629764

 

 

 

 

 

 

 

 

 

 

 

Other external references
 

    dbSNP
  • rs80225756
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs1130398
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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