CHEK2 R180C - 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!



(CHEK2 Arg180Cys)

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

  • None available.



Other external references

    Web search results (9 hits -- see all)
  • Germline CHEK2 Mutations in Jewish Ashkenazi Women at High ...
    CHEK2 Mutations in Ashkenazi Jewish Women. Familial clustering of breast cancer is noted ... CHEK2 gene as a candidate breast cancer gene stems from several ...
  • Germline CHEK2 mutations in Jewish Ashkenazi women at high ...
    Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. ... were detected (R3W 1.2%, 1157T 1.2%, R180C 0.6% and S428F 5%), one silent polymorphism ...
  • Poster Session A
    experiments revealed two novel mutations: R180C and 1135delTC. Mutation R180C is not located in a functional ... CHEK2 gene into the Rad53 deleted yeast resulted in growth in ...
  • SULT1E1 and ID2 genes as candidates for inherited ...
    Overall, 101 individuals (83 I157T*CHEK2 mutation carriers) were genotyped: 16 ... In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically ...
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... in the CHEK2 gene by exon-specific polymerase chain reaction followed by denaturing ...
  • Breast Cancer Risk Factors - Investigators at Sheba Medical ...
    NewsRx is the leading source of news and information on Breast Cancer Risk Factors ... The CHEK2 gene encodes a checkpoint kinase, involved in response to DNA damage, and hence ...
  • The P1812A and P25T BRCA1 and the 5164del4 BRCA2 Mutations ...
    BioInfoBank Library :: The P1812A and P25T BRCA1 and the 5164del4 BRCA2 Mutations: Occurrence in High-Risk Non-Ashkenazi Jews. Characterization of cancer-linked ...
  • OHD - Olomoucké Hematologické dny
    Produktem CHEK2 genu je proteinkináza podílející se na přenosu a amplifikaci ... alterací v genu CHEK2 [c.470T>C (p.I157T), c.538C>T (p.R180C), c.542G> ...[rocnik]=2009&...

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in