OGG1 G308E - GET-Evidence

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

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OGG1 G308E

(OGG1 Gly308Glu)

Short summary


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


Insufficiently evaluated not reviewed

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



Other external references

  • 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. ...
  • 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 ...
  • 1441
    OGG1 gene have been detected in a subset of lung, gastric, ... cancers, suggesting that aberrations of OGG1. contribute to human carcinogenesis by ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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