OGG1 G308E - GET-Evidence

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

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Curation:
Currentness:

OGG1 G308E

(OGG1 Gly308Glu)


Short summary

 

Variant evidence
Computational -
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

  • A @ chr3:9798475: 0.4% (43/10758) in EVS
  • Frequency shown in summary reports: 0.4% (43/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.988 (probably damaging)
    Web search results (7 hits -- see all)
  • Electronic Microarray Technique for Detection of Nine Base ...
    In addition, somatic mutations in the OGG1 gene have been detected in a subset ... optimized nine capture oligonucleotides for the nine base substitutions in OGG1. ...
    www.clinchem.org/cgi/content/full/50/8/1441
  • Germline Mutations but Not Somatic Changes at the MYH Locus ...
    No clearly pathogenic mutations were found in MTH1 or OGG1. ... L and D119D in MTH1 19 and G308E 20 and S326C 21 in OGG1, were found with respective allele frequencies of 1 ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1851182
  • 1441
    OGG1 gene have been detected in a subset of lung, gastric, ... cancers, suggesting that aberrations of OGG1. contribute to human carcinogenesis by ...
    www.clinchem.org/cgi/reprint/50/8/1441.pdf
  • Structural basis for recognition and repair of the endogenous ...
    The third and ®nal component is Ogg1, a DNA glycosylase/b-lyase that recognizes oxoG ... The human OGG1 gene is located in a region on the short arm of ...
    verdinelab.harvard.edu/pdfs/Verdine111.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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