POLG G848S - GET-Evidence

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

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Curation:
Currentness:

POLG G848S

(POLG Gly848Ser)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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 @ chr15:89865023: 0.0% (3/10758) in EVS
  • Frequency shown in summary reports: 0.0% (3/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the POLG gene
    Progressive External Ophthalmoplegia with Mitochondrial DNA Dele
    Alpers-Huttenlocher Syndrome
    POLG-Related Disorders
    POLG-Related Sensory Ataxic Neuropathy, Dysarthria, and Ophthalm
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POLG
    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (128 hits -- see all)
  • European Journal of Human Genetics - Abundance of the POLG ...
    The G848S disease chromosomes of patients from Australia and New ... W748S, and likely also G848S mutations of POLG derive from single ancient ancestors, ...
    www.nature.com/ejhg/journal/v15/n7/full/5201831a.html
  • POLG mutations in Alpers syndrome
    POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T ... mutant POLG alleles that cause Alpers syndrome are summarized. NEUROLOGY 2005;65:1493 ...
    www.haileyswish.org/file_download/8
  • OMIM 174763 - DNA polimerasi gamma
    La umano POLG cDNA, isolata da un cellule HeLa genoteca di cDNA, ... identificarono una eterozigoti G848S mutazione nel gene POLG ed una eterozigoti arg334 ...
    www.fonama.org/i_omim/mito1/i_174763.html
  • Supplemental Online Material
    W748S. B. Kindred A5. I. II. POLG. A467T. A467T. POLG. C. 1. A467T. 1. 2. 1 ... POLG. G848S. G848S. A467T. D. 1. 1. 2. 3. A467T. 2. 4. POLG. POLG. Supplemental Online Material ...
    www.neurology.org/cgi/data/01.wnl.0000182814.55361.70/DC1/1
  • TDL Pathology Website - TDL Genetics: Tests A-B
    TDL Pathology - the largest independent provider of clinical laboratory diagnostic services in the UK ... Alpers Syndrome – 3 common POLG mutations (p.A467T + p.W748S + p.G848S) ...
    tdlpathology.com/index.php?...&task=view&id=7&Itemid=87
  • Oxford Molecular Genetics Laboratory
    Initial testing for 3 common autosomal recessive POLG mutations ... restriction digest for the common POLG p.A467T, p.W748S & p.G848S mutations (these mutations are reported to ...
    oxfordradcliffe.nhs.uk/forpatients/departments/.../POLG.pdf
  • van Goethem, G (Gert)
    Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial ... we show that a second common POLG mutation, A467T, also shows common European ancestry: ...
    lib.bioinfo.pl/auid:84880
  • POLG mutations in Alpers syndrome -- Nguyen et al., 10.1212 ...
    POLG mutations in Alpers syndrome. K. V. Nguyen PhD, E. stergaard MD, PhD, S. Holst Ravn ... of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T ...
    neurology.org/cgi/content/short/...
  • Unbound MEDLINE | A novel POLG gene mutation in 4 children ...
    Unbound MEDLINE | A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Journal article. Search by keyword, journal, author or by EBM ...
    unboundmedicine.com/medline/ebm/record/20142534/...
  • Arch Neurol -- Abstract: A Novel POLG Gene Mutation in 4 ...
    Archives of Neurology, a monthly professional medical journal published by the American Medical Association, publishes original, peer-reviewed scientific ...
    archneur.ama-assn.org/cgi/content/short/67/2/239?rss=1

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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