COL7A1 P1277L - GET-Evidence

Curation:
Currentness:

COL7A1 P1277L

(COL7A1 Pro1277Leu)


Short summary

Polymorphism, presumed benign.

Variant evidence
Computational -1

BLOSUM100 score indicates Pro to Leu is disruptive, Polyphen 2 prediction unknown.

Functional -
Case/Control 5

Allele frequency strongly contradicts a severe pathogenic effect

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

Mentioned as a polymorphism (nonpathogenic) in the 2005 dissertation “The Molecular Basis of Dystrophic Epidermolysis Bullosa: Mutation Detection and Study of Clinical, Biochemical and Molecular Findings in 29 Patients” by Johannes S. Kern, Albert-Ludwigs-Universitat in Freiburg.

Allele frequency

  • A @ chr3:48623124: 4.1% (438/10758) in EVS
  • A @ chr3:48598127: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (438/10758)

Publications
 

Genomes
 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr3:48623124

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr3:48623124

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr3:48623124

 

 

 

Other external references
 

    dbSNP
  • rs35761247
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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