IRF6 V274I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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IRF6 V274I

(IRF6 Val274Ile)


You are viewing an old version of this page that was saved on November 6, 2019 at 9:55am by Alana Lynch.

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr1:209964080: 1.1% (120/10758) in EVS
  • T @ chr1:208030702: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 1.1% (120/10758)

Publications
 

Added in this revision:

301 Moved Permanently

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PubMed PMID: 15317890

 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr1:209964080

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr1:209964080

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr1:209964080

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr1:208030703

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr1:208030703

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr1:208030703

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr1:208030703

 

GS19735 - var-GS19735-1100-36-ASM
hom T @ chr1:208030703

 

Other external references
 

    dbSNP
  • rs2235371
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the IRF6 gene
    Cleft Lip +/- Cleft Palate
    IRF6-Related Disorders
    Popliteal Pterygium Syndrome
    van der Woude Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IRF6
    PolyPhen-2
  • Score: 0.54 (possibly damaging)
    Web search results (103 hits -- see all)
  • Interferon Regulatory Factor 6 (IRF6) and Fibroblast Growth ...
    IRF6 V274I and FGFR1 rs881301 Results (FBAT) for Subpopulations of Tooth Agenesis Cases ... The IRF6 V274I (rs17015215) V allele and the MSX1-CA 169-base-pair allele were ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2570343
  • NEJM -- Interferon Regulatory Factor 6 (IRF6) Gene Variants ...
    Original Article from The New England Journal of Medicine -- Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate
    content.nejm.org/cgi/content/full/351/8/769
  • Disruption of an AP-2 binding site upstream of <i>IRF6</i> is ...
    Subsequently, we reported a strong association between SNPs in the IRF6 locus and NSCLP. ... with V274I and could reside in the regulatory element(s) of IRF6. ...
    www.ashg.org/genetics/ashg07s/f20354.htm
  • Disruption of an AP-2α binding site in an IRF6 enhancer is ...
    Disruption of an AP-2α binding site in an IRF6 enhancer is strongly associated with cleft lip ... splits the V allele of V274I into two distinct haplotypes, V-G and ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2691688/?tool=pubmed
  • Interferon Regulatory Factor 6 ( IRF6 ) Gene Variants and the ...
    transmission-disequilibrium testing for V274I in 8003 individual subjects in 1968 fam ... (V274I) in the protein-binding domain of IRF6. Since the valine found ...
    content.nejm.org/cgi/reprint/351/8/769.pdf
  • doi:10.1086/427344
    in the gene for interferon regulatory factor 6 (IRF6) have been shown to be the cause of ... the V274I polymorphism. On the other hand, it is very unlikely that V274I, or the ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Barth, S (Sandra)
    Barth, S (Sandra) :: The database of epoxide hydrolases and haloalkane dehalogenases: one ... coding variant V274I (rs2235371) and five IRF6-haplotype tagging single nucleotide ...
    lib.bioinfo.pl/auid:52266
  • Interferon regulatory factor 6 (IRF6) gene variants and the ...
    Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or ... disequilibrium testing for V274I in 8003 individual subjects ...
    tripdatabase.com/doc/283469-Interferon-regulatory-factor-6--IRF6...
  • Nöthen, MM (Markus M)
    Nöthen, MM (Markus M) :: Hypotrichosis simplex of the scalp is associated with nonsense ... coding variant V274I (rs2235371) and five IRF6-haplotype tagging single nucleotide ...
    lib.bioinfo.pl/auid:32096
  • Analysis of IRF6 gene in Van der Woude syndrome from an ...
    More than 70 mutations have been reported to date in IRF6 in VWS cases. ... C>T, 1511 T>A (Ser 416 Arg) and 2 known variants; IVS6+27 C>G, 1083G>A (V274I) ...
    www.ashg.org/2008meeting/abstracts/fulltext/f20777.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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