MSH6 G39E - 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:

MSH6 G39E

(MSH6 Gly39Glu)


Short summary

 

Variant evidence
Computational 1

PolyPhen-2 predicts this mutation to be BENIGN with a score of 0.000 (sensitivity: 1.00; specificity: 0.00).

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 @ chr2:48010488: 18.2% (1793/9862) in EVS
  • Frequency shown in summary reports: 18.2% (1793/9862)

Publications
 

Sanyal S, De Verdier PJ, Steineck G, Larsson P, Onelöv E, Hemminki K, Kumar R. Polymorphisms in XPD, XPC and the risk of death in patients with urinary bladder neoplasms. Acta Oncol. 2007;46(1):31-41. PubMed PMID: 17438703.

 

Campbell PT, Curtin K, Ulrich CM, Samowitz WS, Bigler J, Velicer CM, Caan B, Potter JD, Slattery ML. Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors. Gut. 2009 May;58(5):661-7. Epub 2008 Jun 3. PubMed PMID: 18523027; PubMed Central PMCID: PMC2903215.

 

Curtin K, Samowitz WS, Wolff RK, Caan BJ, Ulrich CM, Potter JD, Slattery ML. MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer. Mol Carcinog. 2009 Nov;48(11):989-94. PubMed PMID: 19582761; PubMed Central PMCID: PMC2895423.

 

Genomes
 

 

 

 

 

hu34D5B9 - hu34D5B9 exome
het A @ chr2:48010488

 

 

 

 

 

 

 

 

NA12878

 

Other external references
 

    dbSNP
  • rs1042821
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the MSH6 gene
    Hereditary Non-Polyposis Colon Cancer
    MSH6-Related Hereditary Non-Polyposis Colon Cancer
    MSH6-Related Turcot Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MSH6
    PolyPhen-2
  • Score: 0.873 (probably damaging)
    Web search results (108 hits -- see all)
  • Molecular Carcinogenesis - Wiley InterScience
    If the problem persists, you may wish to report it to your local Network Manager. ... MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer (p 989-994) ...
    www3.interscience.wiley.com/journal/37603/home
  • Polymorphisms in XPD, XPC and the risk of death in patients ...
    The variant allele carriers of MSH6 (G39E) polymorphism showed a higher risk for highly malignant disease (TaG3 +T1) than the non-carriers (p =0.03) ...
    cat.inist.fr/?aModele=afficheN&cpsidt=18475230
  • Polygenic model of DNA repair genetic polymorphisms in human ...
    ... MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 ... Therefore, the MSH6 39GG genotype in combination with p53 mutations may have a greater ...
    carcin.oxfordjournals.org/cgi/content/full/29/11/2132
  • FHA - Phenotype - Research News and Information
    Latest research news and information about Phenotype - The outward appearance of the individual. ... MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer. ...
    www.find-health-articles.com/msh-phenotype.htm
  • Medscape | Mol Carcinog - Content Listing
    Necdin: a multi functional protein with potential tumor suppressor role? ... MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer. ...
    www.medscape.com/viewpublication/3343
  • Polygenic model of DNA repair genetic polymorphisms in human ...
    Carcinogenesis Advance Access originally published online on August ... MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 ...
    carcin.oxfordjournals.org/cgi/content/short/29/11/2132
  • FHA - DNA-Binding Proteins - Research News and Information
    Latest research news and information about DNA-Binding Proteins - Proteins which bind to DNA. ... MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer. ...
    www.find-health-articles.com/msh-dna-binding-proteins.htm
  • Papers by Slattery M | Labmeeting
    Labmeeting uses lots of Javascript - basically you can't use the site without it. ... MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer. ...
    www.labmeeting.com/papers/author/slattery-m
  • Profile
    Ph.D., University of Washington, Epidemiology (Minor: Health Services ... Curtin K (2009) MSH6 G39E polymorphisms and CpG island methylator phenotype in colon cancer, Molecular ...
    myprofile.cos.com/nulrich
  • BioMed Central | Full text | Association of common variants ...
    ... by the heterodimer consisting of the MSH2 and MSH6 proteins (also called MutSα) ... rs184967), MSH4 (N914S, G>A, rs5745549; A97T, A>G, rs5745325), MSH6 (G39E, C>T, ...
    www.biomedcentral.com/1471-2407/9/344

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in