GDF5 Y487X - GET-Evidence

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

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Curation:
Currentness:

GDF5 Y487X

(GDF5 Tyr487Stop)


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
    Web search results (10 hits -- see all)
  • OMIM: 601146
    Mature GDF5 protein was detected in supernatant derived from L373R-transfected ... to-ter (Y487X) substitution predicted to truncate the GDF5 precursor polypeptide ...
    www.genome.jp/dbget-bin/www_bget?omim+601146
  • Novel point mutations in GDF5 associated with two distinct ...
    BioInfoBank Library :: Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. ...
    lib.bioinfo.pl/pmid:18283415
  • PubMed: 18283415
    The mature GDF5 protein was detected, as in the wild-type, in supernatant ... mutant GDF5 transfected cells, but not in the supernatant from the p.Y487X mutant ...
    www.genome.jp/dbget-bin/www_bget?pubmed+18283415
  • Journal of Human Genetics - Abstract of article: Novel point ...
    The mature GDF5 protein was detected, as in the wild-type, in supernatant ... mutant GDF5 transfected cells, but not in the supernatant from the p.Y487X mutant ...
    www.nature.com/doifinder/10.1007/s10038-008-0253-7
  • Brachydactyly Type A2 Associated with a Defect in proGDF5 ...
    Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. Incomplete penetrance ... c.1461T > G (p.Y487X), which is predicted to truncate the GDF5 precursor protein ...
    lib.bioinfo.pl/pmid:18203755
  • Journal Of Human Genetics RSS Page 3
    Novel point mutations in GDF5 associated with two distinct limb ... 1461T > G (p.Y487X), which is predicted to truncate the GDF5 precursor protein by deleting 15 amino acids at ...
    medworm.com/rss/search.php?qu=Journal+of+...&f=source&page=3

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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