SPRED1 R262X - GET-Evidence

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

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Curation:
Currentness:

SPRED1 R262X

(SPRED1 Arg262Stop)


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 (15 hits -- see all)
  • SPRED1 mutations (Legius syndrome): another clinically useful ...
    SPRED1 mutations (Legius syndrome): another clinically useful genotype for ... identified with a SPRED1 nonsense mutation (R262X), both presented ...
    jmg.bmj.com/content/46/7/431.full
  • OMIM: 609291
    Overexpression of Spred1 inhibited NGF (162030)-induced neurite differentiation in rat ... in exon 8 of the SPRED1 gene, resulting in an arg262-to-ter (R262X) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+609291
  • SPRED1 mutations (Legius syndrome): another clinically useful ...
    SPRED1 mutations (Legius syndrome): another clinically useful ... SPRED1 mutations were identified in six cases, 5 were novel and included 3 nonsense (R16X, E73X, R262X), 2 ...
    jmg.bmj.com/content/early/2009/05/13/...
  • Pubget: issn:0022-2593 vol:46 issue:7 - Journal of Medical ...
    SPRED1 mutations were identified in 6 cases; 5 were novel and ... SPRED1 mutations were identified in 6 cases; 5 were novel and included 3 nonsense (R16X, E73X, R262X), 2 ...
    pubget.com/search?q=issn:0022-2593 vol:46 issue:7&from=19...
  • SPRED1 mutations (Legius syndrome): another clinically useful ...
    OBJECTIVE: Mutations of the SPRED1 gene, one of a family of Sprouty (Spry)/Spred proteins known to
    www.medscape.com/medline/abstract/19443465
  • Thomas, N (Nick)
    Thomas, N (Nick) :: The evolution of the vertebrate beta-globin gene promoter. Lighting ... RESULTS: SPRED1 mutations were identified in six cases, 5 were novel and included 3 ...
    lib.bioinfo.pl/auid:2326181
  • Genotype-phenotype correlations in X-linked myotubular myopathy.
    SPRED1 mutations (Legius syndrome): another clinically useful ... SPRED1 mutations were identified in six cases, 5 were novel and included 3 nonsense (R16X, E73X, R262X), 2 ...
    lib.bioinfo.pl/pmid:12467749
  • 13th European Neurofibromatosis Meeting
    Identification of SPRED1 Mutations in 3 families with a neurofibromatosis ... Identification of SPRED1 mutations in 3 families with a neurofibromatosis type ...
    www.apnf.eu/docs/13th_ireland/NFM_programme_web.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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