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NM_001102564.3(IFT43):c.1A>G (p.Met1Val) AND Cranioectodermal dysplasia 3

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 1, 2011
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:
RCV000024093.6

Allele description [Variation Report for NM_001102564.3(IFT43):c.1A>G (p.Met1Val)]

NM_001102564.3(IFT43):c.1A>G (p.Met1Val)

Gene:
IFT43:intraflagellar transport 43 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_001102564.3(IFT43):c.1A>G (p.Met1Val)
HGVS:
  • NC_000014.9:g.75985787A>G
  • NG_011715.1:g.963T>C
  • NG_031957.1:g.5035A>G
  • NM_001102564.3:c.1A>GMANE SELECT
  • NM_001255995.3:c.1A>G
  • NM_052873.3:c.1A>G
  • NP_001096034.1:p.Met1Val
  • NP_001242924.1:p.Met1Val
  • NP_443105.2:p.Met1Val
  • LRG_399:g.963T>C
  • NC_000014.8:g.76452130A>G
  • NM_052873.2:c.1A>G
  • NR_045664.2:n.25A>G
  • NR_045665.2:n.25A>G
Protein change:
M1V; MET1VAL
Links:
OMIM: 614068.0001; dbSNP: rs387907107
NCBI 1000 Genomes Browser:
rs387907107
Molecular consequence:
  • NM_001102564.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001255995.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_052873.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001102564.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001255995.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052873.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045664.2:n.25A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_045665.2:n.25A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cranioectodermal dysplasia 3 (CED3)
Identifiers:
MONDO: MONDO:0013573; MedGen: C3279807; Orphanet: 1515; OMIM: 614099

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000045384OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2011) 		germlineliterature only

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

SCV000087018GeneReviews
no classification provided
not providedunknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R.

J Med Genet. 2011 Jun;48(6):390-5. doi: 10.1136/jmg.2011.088864. Epub 2011 Mar 4.

PubMed [citation]
PMID:
21378380

Cranioectodermal Dysplasia.

Tan W, Lin A, Keppler-Noreuil K.

2013 Sep 12 [updated 2022 Dec 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
24027799

Details of each submission

From OMIM, SCV000045384.4

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

Description

In an affected brother and sister from a consanguineous family of Moroccan descent with cranioectodermal dysplasia-3 (CED3; 614099), Arts et al. (2011) identified homozygosity for a 1A-G transition at the translation initiation codon of the IFT43 gene, resulting in a met1-to-val (M1V) substitution. The unaffected first-cousin parents were heterozygous for the mutation, which was not found in 192 Dutch or 122 Moroccan control alleles. Western blot analysis revealed that the mutant IFT43 protein had a molecular mass that was approximately 3 kD lower than wildtype, consistent with translation initiation in exon 2, at the next available ATG initiation codon of the coding sequence, resulting in an N-terminal deletion of 21 amino acids in the same open reading frame. Patient fibroblasts showed accumulation of IFTB complex proteins in the distal part of the ciliary axoneme and in the ciliary tip, whereas in the cilia of control fibroblasts, those proteins were less abundant and primarily located at the basal body and transition zone; the mutant cilia were also somewhat shorter than those of controls.

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

From GeneReviews, SCV000087018.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2024