FGB R47X - GET-Evidence

Curation:
Currentness:

FGB R47X

(FGB Arg47Stop)


Short summary

Proposed to cause severe hypofibrinogenemia in a recessive manner. Seen homozygously in one of three patients by Asselta et al 2002 (PMID: 12161363), and heterozygously in a single case reported by Asselta et al 2004 (PMID: 15070683).

Variant evidence
Computational 5

Stop codon early in the gene, predicted to be extremely disruptive. Other variants in this gene cause this disease.

Functional -
Case/Control 2

Seen in multiple cases

Familial -
 
Clinical importance
Severity 3
Treatability 4
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
 

Asselta R, Spena S, Duga S, Peyvandi F, Malcovati M, Mannucci PM, Tenchini ML. Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia. Haematologica. 2002 Aug;87(8):855-9. PubMed PMID: 12161363.

 

Asselta R, Duga S, Spena S, Peyvandi F, Castaman G, Malcovati M, Mannucci PM, Tenchini ML. Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia. Blood. 2004 Apr 15;103(8):3051-4. Epub 2003 Dec 24. PubMed PMID: 15070683.

 

Genomes
 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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