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NM_006147.4(IRF6):c.1137G>A (p.Trp379Ter) AND Van der Woude syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2003
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:
RCV000003587.5

Allele description [Variation Report for NM_006147.4(IRF6):c.1137G>A (p.Trp379Ter)]

NM_006147.4(IRF6):c.1137G>A (p.Trp379Ter)

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.1137G>A (p.Trp379Ter)
HGVS:
  • NC_000001.11:g.209789709C>T
  • NG_007081.2:g.21426G>A
  • NM_001206696.2:c.852G>A
  • NM_006147.4:c.1137G>AMANE SELECT
  • NP_001193625.1:p.Trp284Ter
  • NP_006138.1:p.Trp379Ter
  • NC_000001.10:g.209963054C>T
Note:
NCBI staff reviewed the sequence information reported in PubMed 12920575 to determine the location of this allele on current reference sequence (W379*).
Protein change:
W284*; TRP379TER
Links:
OMIM: 607199.0008; dbSNP: rs121434228
NCBI 1000 Genomes Browser:
rs121434228
Molecular consequence:
  • NM_001206696.2:c.852G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006147.4:c.1137G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023745OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2003) 		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

Novel mutations in the IRF6 gene for Van der Woude syndrome.

Wang X, Liu J, Zhang H, Xiao M, Li J, Yang C, Lin X, Wu Z, Hu L, Kong X.

Hum Genet. 2003 Oct;113(5):382-6. Epub 2003 Aug 14.

PubMed [citation]
PMID:
12920575

Details of each submission

From OMIM, SCV000023745.4

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

Description

In a Chinese family with van der Woude syndrome (VWS1; 119300), Wang et al. (2003) found a nonsense mutation in the IRF6 gene: a TGG-to-TGA (1400G-A) transition in exon 8, introducing a premature stop codon in place of a tryptophan residue (W379X).

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

Last Updated: Mar 30, 2024