CHEK2 P85L - GET-Evidence

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

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Curation:
Currentness:

CHEK2 P85L

(CHEK2 Pro85Leu)


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

  • A @ chr22:29130456: 0.2% (22/10758) in EVS
  • A @ chr22:27460455: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.2% (22/10758)

Publications
 

Genomes
 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr22:27460456

 

Other external references
 

    dbSNP
  • rs17883862
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (44 hits -- see all)
  • Functional and genomic approaches reveal an ancient CHEK2 ...
    CHEK2.S428F failed to complement Rad53 and thus largely abrogates normal CHEK2 function, whereas CHEK2.P85L complemented Rad53 as well as did wildtype CHEK2. ...
    hmg.oxfordjournals.org/cgi/content/short/ddi052v1
  • Functional and genomic approaches reveal an ancient CHEK2 ...
    We sequenced CHEK2 in a case representing each haplotype and ... CHEK2.S428F failed to complement Rad53 and thus largely abrogates normal CHEK2 function, whereas CHEK2.P85L ...
    hmg.oxfordjournals.org/cgi/content/abstract/14/4/555
  • Medline ┬« Abstract for Reference of 'Genetic testing for ...
    We sequenced CHEK2 in a case representing each haplotype and ... CHEK2.S428F failed to complement Rad53 and thus largely abrogates normal CHEK2 function, whereas CHEK2.P85L ...
    uptodate.com/patients/content/abstract.do?...&refNum=75
  • Genetic and functional analysis of CHEK2 (CHK2) variants in ...
    The CHEK2-1100delC mutation is recurrent in the population and is a moderate risk factor for breast cancer. ... attenuated in vitro function, CHEK2-P85L, is not associated with ...
    www.ncbi.nlm.nih.gov/pubmed/17721994
  • S. cerevisiae
    We sequenced CHEK2 in a case representing each haplotype and ... CHEK2.S428F failed to complement Rad53 and thus largely abrogates normal CHEK2 function, whereas CHEK2.P85L ...
    www.bionewsonline.com/z/1/s_cerevisiae_a.htm
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... CHEK2 function, whereas CHEK2.P85L complemented Rad53 as well as did wild-type CHEK2. ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Welcsh
  • OMIM: 604373
    CHEK2 also phosphorylates its own FHA domain, and this modification reduces its ... of normal CHEK2 function, whereas the P85L allele complemented Rad53 as did wildtype CHEK2. ...
    www.genome.jp/dbget-bin/www_bget?omim+604373
  • Mendelian Inheritance in Man Document Reader
    CHEK2 also phosphorylates its own FHA domain, and this modification reduces its ... (2002) found a pro85-to-leu (P85L) missense mutation of the CHEK2 gene. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+604373
  • Hereditary breast cancer: from molecular pathology to ...
    whereas frequencies for P85L did not show any difference. between cases and controls. A ... Nevanlinna H, Bartek J. The CHEK2 gene and inherited breast cancer ...
    jcp.bmjjournals.com/content/61/10/1073.full.pdf+html
  • Hereditary breast cancer: from molecular pathology to ...
    Tan, D S P; Marchi├▓, C; Reis-Filho, J S ... a twofold increase in breast cancer risk, whereas frequencies for P85L did not show any difference between cases and controls. ...
    jcp.bmjjournals.com/content/61/10/1073.full

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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