NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter) AND Primary ciliary dyskinesia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 7, 2021
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:: RCV002440873.3

Allele description [Variation Report for NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter)]

NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter)

Genes:

DNAAF3-AS1:DNAAF3 antisense RNA 1 [Gene - HGNC]
DNAAF3:dynein axonemal assembly factor 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter)

HGVS:

NC_000019.10:g.55161076G>A
NG_007866.2:g.1657C>T
NG_032759.1:g.10647C>T
NM_001256714.1:c.1105C>T
NM_001256715.2:c.901C>TMANE SELECT
NM_001256716.2:c.739C>T
NM_178837.4:c.1042C>T
NP_001243643.1:p.Gln369Ter
NP_001243644.1:p.Gln301Ter
NP_001243645.1:p.Gln247Ter
NP_849159.2:p.Gln348Ter
LRG_432:g.1657C>T
NC_000019.9:g.55672444G>A

Protein change:

Q247*

Links:

dbSNP: rs2085819579

NCBI 1000 Genomes Browser:

rs2085819579

Molecular consequence:

NM_001256714.1:c.1105C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001256715.2:c.901C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001256716.2:c.739C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_178837.4:c.1042C>T - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002745443	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 7, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002745443

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 7, 2021)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.

Alzaid M, Al-Mobaireek K, Almannai M, Mukhtar G, Eltahir S, Zafar A, Zada AP, Alotaibi W.

Int J Pediatr Adolesc Med. 2021 Dec;8(4):258-263. doi: 10.1016/j.ijpam.2021.03.002. Epub 2021 Mar 11.

PubMed [citation]

PMID:: 34401452
PMCID:: PMC8356118

Details of each submission

From Ambry Genetics, SCV002745443.2

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

Description

The p.Q369* pathogenic mutation (also known as c.1105C>T), located in coding exon 8 of the DNAAF3 gene, results from a C to T substitution at nucleotide position 1105. This changes the amino acid from a glutamine to a stop codon within coding exon 8. This alteration was detected in an individual in a primary ciliary dyskinesia (PCD) cohort (Alzaid M et al. Int J Pediatr Adolesc Med, 2021 Dec;8:258-263). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 16, 2024

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