IRF6 V274I - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!


IRF6 V274I

(IRF6 Val274Ile)

Short summary

Common polymorphism. Zucchero et al. find an association between V allele homozygosity and Van der Woude syndrome, but also conclude this variant is not causative.

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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)


301 Moved Permanently

Moved Permanently

The document has moved here.

PubMed PMID: 15317890



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

  • rs2235371
  • GeneTests records for the IRF6 gene
    Cleft Lip +/- Cleft Palate
    IRF6-Related Disorders
    Popliteal Pterygium Syndrome
    van der Woude Syndrome
  • 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 ...
  • 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
  • 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. ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in