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NM_181426.2(CCDC39):c.*545dup AND Primary ciliary dyskinesia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000401916.14

Allele description [Variation Report for NM_181426.2(CCDC39):c.*545dup]

NM_181426.2(CCDC39):c.*545dup

Genes:
CCDC39:coiled-coil domain 39 molecular ruler complex subunit [Gene - OMIM - HGNC]
TTC14:tetratricopeptide repeat domain 14 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q26.33
Genomic location:
Preferred name:
NM_181426.2(CCDC39):c.*545dup
HGVS:
  • NC_000003.12:g.180614382dup
  • NG_029581.1:g.70120dup
  • NM_001288582.2:c.1775-2998dup
  • NM_181426.2:c.*545dupMANE SELECT
  • NC_000003.11:g.180332170dup
  • NM_181426.1:c.*545dupC
Links:
dbSNP: rs886058190
NCBI 1000 Genomes Browser:
rs886058190
Molecular consequence:
  • NM_181426.2:c.*545dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001288582.2:c.1775-2998dup - 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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000442201Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000442201.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024