U.S. flag

An official website of the United States government

NM_018139.3(DNAAF2):c.1906G>T (p.Glu636Ter) AND Primary ciliary dyskinesia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 19, 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:
RCV003030098.3

Allele description

NM_018139.3(DNAAF2):c.1906G>T (p.Glu636Ter)

Gene:
DNAAF2:dynein axonemal assembly factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q21.3
Genomic location:
Preferred name:
NM_018139.3(DNAAF2):c.1906G>T (p.Glu636Ter)
HGVS:
  • NC_000014.9:g.49628113C>A
  • NG_013070.1:g.12118G>T
  • NM_001083908.2:c.1864-2065G>T
  • NM_001378453.1:c.-204-2065G>T
  • NM_018139.3:c.1906G>TMANE SELECT
  • NP_060609.2:p.Glu636Ter
  • NC_000014.8:g.50094831C>A
Protein change:
E636*
Molecular consequence:
  • NM_001083908.2:c.1864-2065G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378453.1:c.-204-2065G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018139.3:c.1906G>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

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
SCV003334116Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 19, 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

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.

Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, et al.

Nature. 2008 Dec 4;456(7222):611-6. doi: 10.1038/nature07471.

PubMed [citation]
PMID:
19052621
PMCID:
PMC3279746

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

Kim RH, A Hall D, Cutz E, Knowles MR, Nelligan KA, Nykamp K, Zariwala MA, Dell SD.

Ann Am Thorac Soc. 2014 Mar;11(3):351-9. doi: 10.1513/AnnalsATS.201306-194OC.

PubMed [citation]
PMID:
24498942
PMCID:
PMC4028737
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003334116.2

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DNAAF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu636*) in the DNAAF2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAAF2 are known to be pathogenic (PMID: 19052621, 24498942).

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

Last Updated: Sep 16, 2024