SPRED1 R117X - 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:

SPRED1 R117X

(SPRED1 Arg117Stop)


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 (2 hits -- see all)
  • Neurofibromatosis Type 1-Like Syndrome via SPRED1 Gene ...
    At least eleven heterozygous SPRED1 mutations have been reported in ... Each SPRED1 mutation was. unique to one family or patient, except the R117X nonsense ...
    preventiongenetics.com/ClinicalTesting/.../spred1.pdf
  • OMIM: 609291
    Overexpression of Spred1 inhibited NGF (162030)-induced neurite differentiation in rat ... the SPRED1 gene, resulting in an arg117-to-ter (R117X) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+609291

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in