COL7A1 P2847Shift - GET-Evidence


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 -

No reports for this particular variant.

Familial -
Clinical importance
Severity 5
Treatability 1
Penetrance 5


High clinical importance, Uncertain pathogenic

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • GeneTests records for the COL7A1 gene
    Dystrophic Epidermolysis Bullosa
    Dystrophic Epidermolysis Bullosa, Autosomal Recessive, Hallopeau

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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