U.S. flag

An official website of the United States government

NM_181426.2(CCDC39):c.2497_2498del (p.Gln833fs) AND Primary ciliary dyskinesia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 14, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000529219.18

Allele description

NM_181426.2(CCDC39):c.2497_2498del (p.Gln833fs)

Genes:
CCDC39:coiled-coil domain 39 molecular ruler complex subunit [Gene - OMIM - HGNC]
TTC14:tetratricopeptide repeat domain 14 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q26.33
Genomic location:
Preferred name:
NM_181426.2(CCDC39):c.2497_2498del (p.Gln833fs)
HGVS:
  • NC_000003.11:g.180334392_180334393del
  • NC_000003.12:g.180616605_180616606del
  • NG_029581.1:g.67891_67892del
  • NM_001288582.2:c.1775-775_1775-774del
  • NM_181426.2:c.2497_2498delMANE SELECT
  • NP_852091.1:p.Gln833fs
  • NC_000003.11:g.180334392_180334393del
  • NC_000003.11:g.180334392_180334393delTG
  • NC_000003.11:g.180334393_180334394del
  • NM_181426.1:c.2497_2498del
  • NM_181426.1:c.2497_2498delCA
Protein change:
Q833fs
Links:
dbSNP: rs1007345781
NCBI 1000 Genomes Browser:
rs1007345781
Molecular consequence:
  • NM_181426.2:c.2497_2498del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001288582.2:c.1775-775_1775-774del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Primary ciliary dyskinesia
Synonyms:
Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000624546Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 14, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, et al.

Nat Genet. 2011 Jan;43(1):72-8. doi: 10.1038/ng.726. Epub 2010 Dec 5.

PubMed [citation]
PMID:
21131972
PMCID:
PMC3509786

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, et al.

Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11.

PubMed [citation]
PMID:
23255504
PMCID:
PMC3630464
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000624546.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Gln833Valfs*6) in the CCDC39 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCDC39 are known to be pathogenic (PMID: 21131972, 23255504). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 23891469). ClinVar contains an entry for this variant (Variation ID: 455019). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 16, 2024