NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter) AND Primary ciliary dyskinesia 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 5, 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:: RCV001849891.4

Allele description [Variation Report for NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter)]

NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter)

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.12397G>T (p.Glu4133Ter)

HGVS:

NC_000005.10:g.13718984C>A
NG_013081.2:g.230497G>T
NM_001369.3:c.12397G>TMANE SELECT
NP_001360.1:p.Glu4133Ter
NC_000005.9:g.13719093C>A
NM_001369.2:c.12397G>T

Protein change:

E4133*

Links:

dbSNP: rs376372961

NCBI 1000 Genomes Browser:

rs376372961

Molecular consequence:

NM_001369.3:c.12397G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Primary ciliary dyskinesia 3
Identifiers:: MONDO: MONDO:0012085; MedGen: C1837618; Orphanet: 244; OMIM: 608644

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002107139	DASA	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 5, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19357118, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002107139

DASA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 5, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL.

J Med Genet. 2009 Apr;46(4):281-6. doi: 10.1136/jmg.2008.061176.

PubMed [citation]

PMID:: 19357118

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 DASA, SCV002107139.2

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

Description

The c.12397G>T;p.(Glu4133*) variant creates a premature translational stop signal in the DNAH5 gene. It is expected to result in an absent or disrupted protein product - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (PMID:19357118) - PS4_supporting. This variant is not present in population databases (rs376372961- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic

#	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		1	not provided	not provided	not provided

Last Updated: May 12, 2024

ClinVar

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