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NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter) AND Primary ciliary dyskinesia 15

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 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:
RCV000024065.3

Allele description [Variation Report for NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)]

NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)

Gene:
CCDC40:coiled-coil domain 40 molecular ruler complex subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)
HGVS:
  • NC_000017.11:g.80082020C>T
  • NG_029761.1:g.50389C>T
  • NM_001243342.2:c.1951C>T
  • NM_017950.4:c.1951C>TMANE SELECT
  • NP_001230271.1:p.Gln651Ter
  • NP_060420.2:p.Gln651Ter
  • NC_000017.10:g.78055819C>T
  • NM_017950.3:c.1951C>T
Protein change:
Q651*; GLN651TER
Links:
OMIM: 613799.0003; dbSNP: rs387907092
NCBI 1000 Genomes Browser:
rs387907092
Molecular consequence:
  • NM_001243342.2:c.1951C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017950.4:c.1951C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Primary ciliary dyskinesia 15
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 15, WITH OR WITHOUT SITUS INVERSUS
Identifiers:
MONDO: MONDO:0013435; MedGen: C3151137; Orphanet: 244; OMIM: 613808

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000045356OMIM
no assertion criteria provided
Pathogenic
(Jan 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

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD.

Nat Genet. 2011 Jan;43(1):79-84. doi: 10.1038/ng.727. Epub 2010 Dec 5.

PubMed [citation]
PMID:
21131974
PMCID:
PMC3132183

Details of each submission

From OMIM, SCV000045356.1

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

Description

In an Austrian girl with CILD15 (613808), Becker-Heck et al. (2011) identified a homozygous 1971C-T transition in exon 12 of the CCDC40 gene, resulting in a gln651-to-ter (Q651X) substitution.

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

Last Updated: Sep 16, 2024