CEBPA H84L - 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!

Curation:
Currentness:

CEBPA H84L

(CEBPA His84Leu)


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
 

    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (2 hits -- see all)
  • share.gene.com
    ... V600E BRAF V600G BRAF V600K BRAF V600L BRAF V600M BRAF V600R BRAF W604G CEBPA A152A CEBPA H191H CEBPA H84L. CTNNB1 A13T CTNNB1 A183S CTNNB1 A183T ...
    share.gene.com/mutation_classification/cancer.variants.txt
  • Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer ...
    Here we identify heterozygous mutations in CEBPA in. ten patients with acute myeloid ... tion acts as a dominant-negative inhibitor of full-length CEBPA, ...
    inneremedizin.insel.ch/fileadmin/innere-pupk/...

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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