NM_006147.4(IRF6):c.65T>C (p.Leu22Pro) AND Popliteal pterygium syndrome

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:: RCV000023629.3

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:: Popliteal pterygium syndrome (PPS)
Identifiers:: MONDO: MONDO:0017435; MedGen: C0265259

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044920	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044920

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2004)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000044920.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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