NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro) AND Primary ciliary dyskinesia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 17, 2018
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:: RCV002434860.3

Allele description [Variation Report for NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)]

NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)

Gene:

DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.2

Genomic location:

Preferred name:

NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)

HGVS:

NC_000005.10:g.13792046C>G
NG_013081.2:g.157435G>C
NM_001369.3:c.8396G>CMANE SELECT
NP_001360.1:p.Arg2799Pro
NC_000005.9:g.13792155C>G
NM_001369.2:c.8396G>C

Protein change:

R2799P

Molecular consequence:

NM_001369.3:c.8396G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002677725	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely pathogenic (Jan 17, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22416021, 26228299 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002677725

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely pathogenic
(Jan 17, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.

Djakow J, Svobodová T, Hrach K, Uhlík J, Cinek O, Pohunek P.

Pediatr Pulmonol. 2012 Sep;47(9):864-75. doi: 10.1002/ppul.22520. Epub 2012 Mar 13.

PubMed [citation]

PMID:: 22416021

An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.

Djakow J, Kramná L, Dušátková L, Uhlík J, Pursiheimo JP, Svobodová T, Pohunek P, Cinek O.

Pediatr Pulmonol. 2016 May;51(5):498-509. doi: 10.1002/ppul.23261. Epub 2015 Jul 30.

PubMed [citation]

PMID:: 26228299

Details of each submission

From Ambry Genetics, SCV002677725.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.R2799P variant (also known as c.8396G>C), located in coding exon 50 of the DNAH5 gene, results from a G to C substitution at nucleotide position 8396. The arginine at codon 2799 is replaced by proline, an amino acid with dissimilar properties. This alteration was detected in conjunction with DNAH5 p.P3606Hfs*23 in an individual with situs inversus, rhinorrhea, daily wet cough, sinusitis, otitis media, immotile cilia on high speed videomicroscropy, and outer dynein arm defect on transmission electron microscopy (Djakow J et al. Pediatr. Pulmonol., 2012 Sep;47:864-75; Djakow J et al. Pediatr. Pulmonol., 2016 May;51:498-509). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

#	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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