NM_001369.2(DNAH5):c.1852C>T (p.Arg618Ter) AND Primary ciliary dyskinesia

Clinical significance:Pathogenic (Last evaluated: Jul 24, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000798089.1

Allele description [Variation Report for NM_001369.2(DNAH5):c.1852C>T (p.Arg618Ter)]

NM_001369.2(DNAH5):c.1852C>T (p.Arg618Ter)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.2(DNAH5):c.1852C>T (p.Arg618Ter)
HGVS:
  • NC_000005.10:g.13901452G>A
  • NG_013081.1:g.48029C>T
  • NG_013081.2:g.48029C>T
  • NM_001369.2:c.1852C>T
  • NP_001360.1:p.Arg618Ter
  • NC_000005.9:g.13901561G>A
Protein change:
R618*
Links:
dbSNP: rs778780449
NCBI 1000 Genomes Browser:
rs778780449
Molecular consequence:
  • NM_001369.2:c.1852C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000937686Invitaecriteria provided, single submitter
Pathogenic
(Jul 24, 2018)
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

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.

Paff T, Kooi IE, Moutaouakil Y, Riesebos E, Sistermans EA, Daniels HJMA, Weiss JMM, Niessen HHWM, Haarman EG, Pals G, Micha D.

Hum Mutat. 2018 May;39(5):653-665. doi: 10.1002/humu.23403. Epub 2018 Mar 9.

PubMed [citation]
PMID:
29363216

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, SCV000937686.1

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

Description

This sequence change creates a premature translational stop signal (p.Arg618*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DNAH5 variant in an individual affected with primary ciliary dyskinesia (PMID: 29363216). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jun 14, 2021

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