NM_001378189.1(CFAP57):c.1567G>T (p.Asp523Tyr) AND Van der Woude syndrome 2

Germline classification:
Uncertain significance (1 submission)
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:
RCV000024146.3

Allele description [Variation Report for NM_001378189.1(CFAP57):c.1567G>T (p.Asp523Tyr)]

NM_001378189.1(CFAP57):c.1567G>T (p.Asp523Tyr)

Genes:
LOC126805719:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:43671864-43673063 [Gene]
CFAP57:cilia and flagella associated protein 57 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_001378189.1(CFAP57):c.1567G>T (p.Asp523Tyr)
HGVS:
  • NC_000001.11:g.43206744G>T
  • NG_028079.2:g.39415G>T
  • NM_001167965.1:c.1567G>T
  • NM_001195831.3:c.1567G>T
  • NM_001378189.1:c.1567G>TMANE SELECT
  • NM_152498.3:c.1567G>T
  • NP_001161437.1:p.Asp523Tyr
  • NP_001182760.2:p.Asp523Tyr
  • NP_001365118.1:p.Asp523Tyr
  • NP_689711.2:p.Asp523Tyr
  • NC_000001.10:g.43672415G>T
  • Q96MR6:p.Asp523Tyr
Protein change:
D523Y; ASP523TYR
Links:
UniProtKB: Q96MR6#VAR_066494; OMIM: 614259.0001; dbSNP: rs387907122
NCBI 1000 Genomes Browser:
rs387907122
Molecular consequence:
  • NM_001167965.1:c.1567G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195831.3:c.1567G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378189.1:c.1567G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152498.3:c.1567G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Van der Woude syndrome 2 (VWS2)
Identifiers:
MONDO: MONDO:0011712; MedGen: C1847604; Orphanet: 888; OMIM: 606713

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000045437OMIM
no assertion criteria provided
Uncertain significance
(Jun 1, 2011) 		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

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.

Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC.

Am J Med Genet A. 2011 Jun;155A(6):1314-21. doi: 10.1002/ajmg.a.33980. Epub 2011 May 13.

PubMed [citation]
PMID:
21574244
PMCID:
PMC3753799

Details of each submission

From OMIM, SCV000045437.2

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

Description

This variant, formerly titled VAN DER WOUDE SYNDROME 2 (606713), has been reclassified because its contribution to the phenotype has not been confirmed.

In a Brazilian patient with van der Woude syndrome-2, Rorick et al. (2011) identified a heterozygous 1567G-T transversion in exon 10 of the WDR65 gene, resulting in an asp523-to-tyr (D523Y) substitution at a conserved residue. Because the mutation was not found in controls and significantly changes the biochemical properties of a conserved residue, Rorick et al. (2011) concluded that it was potentially etiologic.

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

Last Updated: Jun 9, 2024