CHEK2 S428F - GET-Evidence

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

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Curation:
Currentness:

CHEK2 S428F

(CHEK2 Ser428Phe)


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 (94 hits -- see all)
  • BioMed Central | Full text | Identification of a novel CHEK2 ...
    Identification of a novel CHEK2 variant and assessment of its ... penetrance CHEK2 alleles such as 1100delC and I157T, as well as variants such as S428F in ...
    www.biomedcentral.com/1471-2407/8/239
  • Functional and genomic approaches reveal an ancient CHEK2 ...
    0.08) by age 60. We conclude that CHEK2.S428F increases breast cancer risk ... mutations CHEK2.S428F or CHEK2.1100delC do not complement deletion of ...
    hmg.oxfordjournals.org/cgi/reprint/14/4/555.pdf
  • Functional and genomic approaches reveal an ancient CHEK2 ...
    CHEK2.S428F heterozygotes among Ashkenazi Jewish cases and controls ... However, CHEK2.S428F was not significantly more frequent among ovarian cancer patients (4 ...
    hmg.oxfordjournals.org/cgi/content/full/14/4/555
  • Germline CHEK2 Mutations in Jewish Ashkenazi Women at High ...
    CHEK2 Mutations in Ashkenazi Jewish Women. Familial clustering of ... CHEK2*S428F mutation: Of the 10 carriers, 2 were asymp- tomatic individuals at high risk ...
    www.ima.org.il/imaj/ar07nov-5.pdf
  • Medline ® Abstract for Reference of 'Genetic testing for ...
    We sequenced CHEK2 in a case representing each haplotype and discovered two ... CHEK2.S428F failed to complement Rad53 and thus largely abrogates normal CHEK2 function, ...
    uptodate.com/patients/content/abstract.do?...&refNum=75
  • BMC Cancer
    as S428F in the Ashkenazi Jewish population and IVS2 + 1G>A in the ... the identification of the CHEK2 S428F mutation in the. Ashkenazi Jewish population, which ...
    www.biomedcentral.com/content/pdf/1471-2407-8-239.pdf
  • S. cerevisiae
    CHEK2.S428F failed to complement Rad53 and thus largely abrogates normal CHEK2 function, ... We conclude that CHEK2.S428F increases breast cancer risk approximately two-fold ...
    www.bionewsonline.com/z/1/s_cerevisiae_a.htm
  • Germline CHEK2 mutations in Jewish Ashkenazi women at high ...
    Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. ... Segregation analysis of the 1157T and S428F mutations (shown to affect protein function) ...
    www.ncbi.nlm.nih.gov/pubmed/18085035
  • Time to Check CHEK2 in Families With Breast Cancer?
    CHEK2 (cell cycle checkpoint kinase 2) is an important player in ... populations, other CHEK2 mutations may emerge; for example CHEK2*S428F is observed in ...
    jco.ascopubs.org/cgi/reprint/26/4/519.pdf
  • Time to Check CHEK2 in Families With Breast Cancer? -- Offit ...
    CHEK2 (cell cycle checkpoint kinase 2) is an important player in the team of all-stars ... CHEK2*S428F is observed in Ashkenazi Jews,21 although the CHEK2*1100C ...
    jco.ascopubs.org/cgi/content/full/26/4/519

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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