CHEK2 R180H - GET-Evidence

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

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Curation:
Currentness:

CHEK2 R180H

(CHEK2 Arg180His)


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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (13 hits -- see all)
  • van Puijenbroek M. Homozygosity for a CHEK2*1100delC mutation ...
    van Puijenbroek M. Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype. 206:198 (2005)
    pubget.com/paper/15818573?...+a+severe+clinical+phenotype.
  • Germline CHEK2 Mutations in Jewish Ashkenazi Women at High ...
    CHEK2 Mutations in Ashkenazi Jewish Women. Familial clustering of breast cancer is noted ... CHEK2 gene encodes a checkpoint kinase, involved in response ...
    www.ima.org.il/imaj/ar07nov-5.pdf
  • OMIM: 604373
    CHEK2 also phosphorylates its own FHA domain, and this modification reduces its ... 3 of the CHEK2 gene predicted to result in an arg180-to-his (R180H) mutation. ...
    www.genome.jp/dbget-bin/www_bget?omim+604373
  • 27 november 2008, 15.00 u.
    CHEK2 speelt een rol in DNA herstel, in celdeling en celdood. ... verklaard door CHEK2 kiembaan varianten R117G, R137Q, R145W, I157T, en R180H. ...
    lumc.nl/0000/13043/17787/17914/80808013028185/80808020044185
  • Homozygosity for a CHEK2*1100delC mutation identified in ...
    It has recently been suggested that the frequency of the germline CHEK2*1100delC mutation is higher among breast cancer families with colorectal cancer, although the ...
    www.medscape.com/medline/abstract/15818573?prt=true
  • Homozygosity for a CHEK2*1100delC mutation identified in ...
    It is also concluded that CHEK2 protein abrogation is not caused by the CHEK2 germline variants R117G, R137Q, R145W, I157T, and R180H in familial colorectal cancer. ...
    www.uniprot.org/citations/15818573
  • WikiGenes - CHEK2 - CHK2 checkpoint homolog (S. pombe)
    The world's first wiki where authorship really matters. Due credit and reputation for ... CHEK2*1100delC mutation and five other (R117G, R137Q, R145W, I157T, and R180H) known ...
    www.wikigenes.org/e/gene/e/11200.html
  • CHEK2 in Breast and Colorectal Cancer
    5.3 Functional studies on CHEK2 I157T and CHEK2 protein expression ... CHEK2 variants E161del (483delAGA), R117G, R137Q, R180H, have been. observed in breast ...
    oa.doria.fi/bitstream/handle/10024/5479/chek2inb.pdf?...
  • Mutation analysis of the checkpoint kinase 2 gene in ...
    CHEK2*1100delC and susceptibility to breast cancer: a collaborative ... CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC ...
    cmj.org/Periodical/PaperList.asp?id=LW2007124369748601962
  • Original article
    Kilpivaara O, et al. A CHEK2 genetic variant contributing to ... 4 CHEK2-Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to ...
    www.cmj.org/Periodical/PdfList.asp?id=LW2007124369748601962

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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