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NM_006147.4(IRF6):c.158A>G (p.Glu53Gly) AND Van der Woude syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 28, 2018
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:
RCV001261360.1

Allele description [Variation Report for NM_006147.4(IRF6):c.158A>G (p.Glu53Gly)]

NM_006147.4(IRF6):c.158A>G (p.Glu53Gly)

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.158A>G (p.Glu53Gly)
HGVS:
  • NC_000001.11:g.209801256T>C
  • NG_007081.2:g.9879A>G
  • NM_001206696.2:c.-112+4691A>G
  • NM_006147.4:c.158A>GMANE SELECT
  • NP_006138.1:p.Glu53Gly
  • NC_000001.10:g.209974601T>C
  • NM_006147.3:c.158A>G
Protein change:
E53G
Links:
dbSNP: rs2077939867
NCBI 1000 Genomes Browser:
rs2077939867
Molecular consequence:
  • NM_001206696.2:c.-112+4691A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006147.4:c.158A>G - 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
SCV001438234Autoinflammatory diseases unit, CHU de Montpellier
no assertion criteria provided
Likely pathogenic
(Aug 28, 2018) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Autoinflammatory diseases unit, CHU de Montpellier, SCV001438234.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024