NM_181426.2(CCDC39):c.1362G>A (p.Gln454=) AND Primary ciliary dyskinesia 14

Germline classification:: Uncertain significance (1 submission)
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:: RCV003337745.2

Allele description [Variation Report for NM_181426.2(CCDC39):c.1362G>A (p.Gln454=)]

NM_181426.2(CCDC39):c.1362G>A (p.Gln454=)

Gene:

CCDC39:coiled-coil domain 39 molecular ruler complex subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.33

Genomic location:

Preferred name:

NM_181426.2(CCDC39):c.1362G>A (p.Gln454=)

HGVS:

NC_000003.12:g.180648165C>T
NG_029581.1:g.36331G>A
NM_181426.2:c.1362G>AMANE SELECT
NP_852091.1:p.Gln454=
NC_000003.11:g.180365953C>T

Molecular consequence:

NM_181426.2:c.1362G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Primary ciliary dyskinesia 14
Synonyms:: CILIARY DYSKINESIA, PRIMARY, 14, WITH OR WITHOUT SITUS INVERSUS
Identifiers:: MONDO: MONDO:0013434; MedGen: C3151136; Orphanet: 244; OMIM: 613807

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004047985	Neuberg Centre For Genomic Medicine, NCGM	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004047985

Neuberg Centre For Genomic Medicine, NCGM

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004047985.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The synonymous c.1362G>A(p.Gln454) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gln454 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This p.Gln454 type of mutation causes no change in the protein that is produced. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (Buratti et al., 2007). For these reasons, this variant has been classified as Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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