CHEK2 R181C - GET-Evidence

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

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Curation:
Currentness:

CHEK2 R181C

(CHEK2 Arg181Cys)


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 (10 hits -- see all)
  • OMIM: 604373
    CHEK2 also phosphorylates its own FHA domain, and this modification reduces its ... CHEK2 gene predicted to result in an arg181-to-cys (R181C) mutation. ...
    www.genome.jp/dbget-bin/www_bget?omim+604373
  • Core Cell Line Viewer
    See this data integrated into the COSMIC data set. Distribution of somatic mutations in ... p.R181C(1) p.R181H(1) 183. p.S183*(1) p.S183*(1) Insertions. Position ...
    sanger.ac.uk/perl/genetics/CGP/...&end=175&coords=AA:AA
  • Core Cell Line Viewer
    See this data integrated into the COSMIC data set. Distribution of somatic mutations in ... p.R181C(1) p.R181H(1) 183. p.S183*(1) p.S183*(1) Insertions. Position ...
    sanger.ac.uk/perl/genetics/CGP/...&end=184&coords=AA:AA
  • TP53 Mutations in Breast Cancer Associated with BRCA1 or ...
    ... H168Y, V173L, R181C, Y234C, R248W, and R283H, but not S215C) completely or ... CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or ...
    cancerres.aacrjournals.org/cgi/content/full/61/10/4092

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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