FBN1 R1170H - GET-Evidence

Curation:
Currentness:

FBN1 R1170H

(FBN1 Arg1170His)


Short summary

Reported to cause a “subdiagnostic variant” of Marfan syndrome as recorded by OMIM in ClinVar. This comes from Montgomery et al 1998 (PMID: 9837823) who report studying this in a single affected family. However, there aren’t later publications confirming this variant as causal, at it is quite common. 1 in 500 are expected to carry this, while the Marfan syndrome affects only 1 in 5,000.

Variant evidence
Computational
Functional
Case/Control -1

variant is far more frequent than the disease

Familial -
 
Clinical importance
Severity 4
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

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr15:48779352: 0.2% (21/10758) in EVS
  • Frequency shown in summary reports: 0.2% (21/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the FBN1 gene
    Ectopia Lentis, Isolated
    FBN1-Related Weill-Marchesani Syndrome
    Marfan Syndrome
    MASS Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBN1
    Web search results (16 hits -- see all)
  • Multiple Molecular Mechanisms Underlying Subdiagnostic ...
    In this study, we examined the FBN1 genotype and. cellular phenotype in families ... each symbol, with a plus sign ( ) denoting the presence of R1170H on one allele. ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • PubMed: 7870075
    Title: A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. ... FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by ...
    www.genome.jp/dbget-bin/www_bget?pubmed+7870075
  • Mendelian Inheritance in Man Document Reader
    Mutations in the FBN1 gene are the major cause of Marfan syndrome (154700) ... However, an R1170H mutation was found in the FBN1 gene (134797.0032) ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+134797
  • Marfan Database (third edition): new mutations and new ...
    FBN1 gene that encodes fibrillin-1. Mutations in this. gene are ... is located, numbered with respect to the FBN1 gene cDNA sequence obtained from ...
    www.abg.org.br/pesquisas_tratamento/trabalhos/doc/marfan.pdf
  • Solution Structure of a Pair of Calcium-Binding
    most interesting class of mutations (fibrillin-1: R1170H; ... for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. to residues 2127 ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Cloning of Four FBN1 Gene and Its Auxiliary Effect in Marfan ...
    The inverse nested PCR was also used to confirm the FBN1 sequence of chicken. ... The rare mutation of R1170H is not highly conserved during evolution and may not be the ...
    www.jokefans.com/read.php/13836.htm
  • Magazine abstract
    Cloned 4 new FBN1 fragments from 4 species and submitted to genbank with access ... The rare mutation of R1170H is not highly conserved during evolution and may not ...
    www.jokefans.com/go.php/page/1/772
  • Porteous, ME (M E)
    Porteous, ME (M E) :: VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum ... mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical ...
    lib.bioinfo.pl/auid:2240818

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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