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NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs) AND Primary ciliary dyskinesia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2022
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:
RCV001382031.8

Allele description [Variation Report for NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs)]

NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs)

Gene:
CCDC39:coiled-coil domain 39 molecular ruler complex subunit [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q26.33
Genomic location:
Preferred name:
NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs)
HGVS:
  • NC_000003.11:g.180349287_180349291del
  • NC_000003.12:g.180631502_180631506del
  • NG_029581.1:g.52993_52997del
  • NM_181426.2:c.1964_1968delMANE SELECT
  • NP_852091.1:p.Glu655fs
  • NC_000003.11:g.180349287_180349291del
  • NC_000003.11:g.180349287_180349291delCTCTT
  • NC_000003.11:g.180349290_180349294del
Protein change:
E655fs
Links:
dbSNP: rs1717695462
NCBI 1000 Genomes Browser:
rs1717695462
Molecular consequence:
  • NM_181426.2:c.1964_1968del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001580628Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 15, 2022) 		germlineclinical testing

PubMed (3)
[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 (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001580628.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1070026). This premature translational stop signal has been observed in individual(s) with clinical features of CCDC39-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu655Glyfs*23) 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).

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

Last Updated: Sep 29, 2024