NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter) AND Primary ciliary dyskinesia

Clinical significance:Pathogenic (Last evaluated: Jul 31, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000469460.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)]

NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)

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.12265C>T (p.Gln4089Ter)
HGVS:
  • NC_000005.10:g.13721014G>A
  • NG_013081.2:g.228467C>T
  • NM_001369.2:c.12265C>T
  • NM_001369.3:c.12265C>TMANE SELECT
  • NP_001360.1:p.Gln4089Ter
  • NP_001360.1:p.Gln4089Ter
  • NC_000005.9:g.13721123G>A
Protein change:
Q4089*
Links:
dbSNP: rs1060501456
NCBI 1000 Genomes Browser:
rs1060501456
Molecular consequence:
  • NM_001369.2:c.12265C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369.3:c.12265C>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
SCV000546311Invitaecriteria provided, single submitter
Pathogenic
(Jul 31, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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, SCV000546311.2

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

Description

This sequence change creates a premature translational stop signal at codon 4089 (p.Gln4089*) of the DNAH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic. This particular variant has been reported in an individual affected with primary ciliary dyskinesia (PMID: 25186273). 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: Nov 27, 2021

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