NM_001369.3(DNAH5):c.5434del (p.Gln1812fs) AND Primary ciliary dyskinesia

Clinical significance:Pathogenic (Last evaluated: Aug 4, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001382829.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.5434del (p.Gln1812fs)]

NM_001369.3(DNAH5):c.5434del (p.Gln1812fs)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.3(DNAH5):c.5434del (p.Gln1812fs)
HGVS:
  • NC_000005.10:g.13841742del
  • NG_013081.2:g.107739del
  • NM_001369.3:c.5434delMANE SELECT
  • NP_001360.1:p.Gln1812fs
  • NC_000005.9:g.13841851del
  • NC_000005.9:g.13841851delG
Protein change:
Q1812fs
Links:
Molecular consequence:
  • NM_001369.3:c.5434del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Primary ciliary dyskinesia (PCD)
Synonyms:
Polynesian bronchiectasis; Immotile cilia syndrome; Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001581770Invitaecriteria provided, single submitter
Pathogenic
(Aug 4, 2014)
germlineclinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001581770.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change is novel. It has not been reported as a common polymorphism (>1% frequency) in the general population, and has not been reported in case studies of affected individuals. This sequence change results in a frameshift at codon 1812 which leads to a premature translational stop signal at codon 1818. It is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating mutations in DNAH5 are known to be pathogenic (PMID: 16627867). In summary, this sequence change is classified as Pathogenic because it is a novel truncating change in a gene with a known loss of function disease mechanism.

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

Last Updated: Jun 14, 2021

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