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NM_001369.3(DNAH5):c.1517dup (p.Asp506fs) AND Primary ciliary dyskinesia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 9, 2017
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:
RCV000548482.5

Allele description [Variation Report for NM_001369.3(DNAH5):c.1517dup (p.Asp506fs)]

NM_001369.3(DNAH5):c.1517dup (p.Asp506fs)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.3(DNAH5):c.1517dup (p.Asp506fs)
HGVS:
  • NC_000005.10:g.13913762dup
  • NG_013081.2:g.35719dup
  • NM_001369.3:c.1517dupMANE SELECT
  • NP_001360.1:p.Asp506fs
  • NC_000005.9:g.13913870_13913871insT
  • NC_000005.9:g.13913871dup
  • NM_001369.2:c.1517dupA
Protein change:
D506fs
Links:
dbSNP: rs1554101045
NCBI 1000 Genomes Browser:
rs1554101045
Molecular consequence:
  • NM_001369.3:c.1517dup - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000624224Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 9, 2017) 		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

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H.

Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20.

PubMed [citation]
PMID:
16627867
PMCID:
PMC2662904

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H.

Nat Genet. 2002 Feb;30(2):143-4. Epub 2002 Jan 14.

PubMed [citation]
PMID:
11788826
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000624224.4

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

Description

For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 16627867, 11788826). This sequence change inserts 1 nucleotide in exon 11 of the DNAH5 mRNA (c.1517dupA), causing a frameshift at codon 506. This creates a premature translational stop signal (p.Asp506Glufs*5) and is expected to result in an absent or disrupted protein product.

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

Last Updated: Apr 15, 2024