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NM_006147.4(IRF6):c.65T>C (p.Leu22Pro) AND Van der Woude syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000023628.3

Allele description [Variation Report for NM_006147.4(IRF6):c.65T>C (p.Leu22Pro)]

NM_006147.4(IRF6):c.65T>C (p.Leu22Pro)

Gene:
IRF6:interferon regulatory factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_006147.4(IRF6):c.65T>C (p.Leu22Pro)
HGVS:
  • NC_000001.11:g.209801349A>G
  • NG_007081.2:g.9786T>C
  • NM_001206696.2:c.-112+4598T>C
  • NM_006147.4:c.65T>CMANE SELECT
  • NP_006138.1:p.Leu22Pro
  • NC_000001.10:g.209974694A>G
  • O14896:p.Leu22Pro
Protein change:
L22P; LEU22PRO
Links:
UniProtKB: O14896#VAR_030048; OMIM: 607199.0014; dbSNP: rs387906967
NCBI 1000 Genomes Browser:
rs387906967
Molecular consequence:
  • NM_001206696.2:c.-112+4598T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006147.4:c.65T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Van der Woude syndrome 1
Synonyms:
Cleft lip and/or palate with mucous cysts of lower lip
Identifiers:
MONDO: MONDO:0007333; MedGen: C4551864; OMIM: 119300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044919OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2004) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.

Ghassibé M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

J Med Genet. 2004 Feb;41(2):e15. No abstract available.

PubMed [citation]
PMID:
14757865
PMCID:
PMC1735675

Details of each submission

From OMIM, SCV000044919.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected individuals from a 4-generation family with van der Woude syndrome (VWS1; 119300), Ghassibe et al. (2004) identified heterozygosity for a 65T-C transition in exon 3 of the IRF6 gene, resulting in a leu22-to-pro (L22P) substitution in the DNA-binding domain. In addition to lip pits and clefting, 2 of the patients also had syndactyly and synechiae, major signs for popliteal-pterygium syndrome (PPS; 119500). Ghassibe et al. (2004) stated that these 2 patients were considered to have PPS, whereas the 6 other affected family members were classified as VWS, thus demonstrating that a single mutation could be responsible for both syndromes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024