CHEK2 A17S - 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.

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Curation:
Currentness:

CHEK2 A17S

(CHEK2 Ala17Ser)


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 (3 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    CHEK2 also phosphorylates its own FHA domain, and this modification reduces its affinity ... SOMATIC CHEK2, ALA17SER Miller et al. (2002) found an ala17-to-ser (A17S) missense ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+604373
  • OMIM: 604373
    CHEK2 also phosphorylates its own FHA domain, and this modification reduces its affinity ... SOMATIC CHEK2, ALA17SER Miller et al. (2002) found an ala17-to-ser (A17S) missense ...
    www.genome.jp/dbget-bin/www_bget?omim+604373

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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