GDF5 M173V - 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:

GDF5 M173V

(GDF5 Met173Val)


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
 

    GeneTests
  • GeneTests records for the GDF5 gene
    Brachydactyly Type A2
    Acromesomelic Dysplasia, Hunter-Thompson Type
    Brachydactyly Type C
    Chondrodysplasia, Grebe Type
    Fibular Hypoplasia and Complex Brachydactyly
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GDF5
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (2 hits -- see all)
  • 5 Diskussion
    Für die Untersuchung von Punktmutationen in BMPR1B und GDF5 stellte sich das ... dass die M173V. Mutation, die in der Prodomäne von GDF5 liegt, die ...
    diss.fu-berlin.de/diss/servlets/MCRFileNodeServlet/...
  • Habilitationsschrift Molekulare Grundlagen von Organmal ...
    bisher beschriebenen heterozygoten GDF5-Mutationen, die zu BDC führen, handelt ... beschriebene p.M173V Mutation deutet auf eine wichtige Funktion der ...
    diss.fu-berlin.de/diss/servlets/MCRFileNodeServlet/...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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