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NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile) AND Van der Woude syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 15, 2008
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:
RCV000003592.4

Allele description [Variation Report for NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile)]

NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile)

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.1016G>T (p.Arg339Ile)
HGVS:
  • NC_000001.11:g.209790539C>A
  • NG_007081.2:g.20596G>T
  • NM_001206696.2:c.731G>T
  • NM_006147.4:c.1016G>TMANE SELECT
  • NP_001193625.1:p.Arg244Ile
  • NP_006138.1:p.Arg339Ile
  • NC_000001.10:g.209963884C>A
  • O14896:p.Arg339Ile
Protein change:
R244I; ARG339ILE
Links:
UniProtKB: O14896#VAR_059080; OMIM: 607199.0013; dbSNP: rs121434231
NCBI 1000 Genomes Browser:
rs121434231
Molecular consequence:
  • NM_001206696.2:c.731G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006147.4:c.1016G>T - 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
SCV000023750OMIM
no assertion criteria provided
Pathogenic
(Jun 15, 2008) 		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

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

de Medeiros F, Hansen L, Mawlad E, Eiberg H, Asklund C, Tommerup N, Jakobsen LP.

Am J Med Genet A. 2008 Jun 15;146A(12):1605-8. doi: 10.1002/ajmg.a.32257.

PubMed [citation]
PMID:
18478600

Details of each submission

From OMIM, SCV000023750.3

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

Description

In a patient with overlapping features of van der Woude syndrome (VWS1; 119300) and popliteal pterygium syndrome (PPS; 119500) (unilateral cleft lip and palate, ankyloblepharon, paramedian lip pits) as well as unilateral renal aplasia and coronal hypospadias, de Medeiros et al. (2008) identified heterozygosity for a 1016G-T transversion in the IRF6 gene, resulting in an arg339-to-ile (R339I) substitution. The mutation was not found in 60 unrelated control individuals. The patient and his brother, who had hypospadias and nephrocalcinosis but no IRF6 mutation, were both conceived by in vitro fertilization. De Medeiros et al. (2008) suggested that the hypospadias and renal aplasia may have been due to the method of fertilization rather than the IRF6 mutation. They noted that a lethal PPS syndrome (263650) has renal aplasia as a feature.

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

Last Updated: Mar 30, 2024