COL7A1 P2847Shift - GET-Evidence

Curation:
Currentness:

COL7A1 P2847Shift

(COL7A1 2847delPinsShift)


Short summary

This frameshift mutation is predicted to cause dystrophic epidermolysis bullosa in a recessive manner. Although there are no known reports of this variant, other disruptive variants in this gene cause this disease. Notably, this variant is nearer to the end than most reports (codon 2,847 out of 2,944 total), this may reduce the severity of its impact on protein function.

Variant evidence
Computational 3

Frameshift predicted to be extremely disruptive.

Functional -
Case/Control

No reports for this particular variant.

Familial -
 
Clinical importance
Severity 5
Treatability 1
Penetrance 5
 

Impact

High clinical importance, Uncertain pathogenic

(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the COL7A1 gene
    Dystrophic Epidermolysis Bullosa
    Dystrophic Epidermolysis Bullosa, Autosomal Recessive, Hallopeau
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL7A1

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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