NM_001369.2(DNAH5):c.4053+1G>T AND Primary ciliary dyskinesia

Clinical significance:Likely pathogenic (Last evaluated: May 12, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000469666.1

Allele description [Variation Report for NM_001369.2(DNAH5):c.4053+1G>T]

NM_001369.2(DNAH5):c.4053+1G>T

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.4053+1G>T
HGVS:
  • NC_000005.10:g.13867773C>A
  • NG_013081.1:g.81708G>T
  • NG_013081.2:g.81708G>T
  • NM_001369.2:c.4053+1G>T
  • NC_000005.9:g.13867882C>A
Links:
dbSNP: rs1060501466
NCBI 1000 Genomes Browser:
rs1060501466
Molecular consequence:
  • NM_001369.2:c.4053+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000546334Invitaecriteria provided, single submitter
Likely pathogenic
(May 12, 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, SCV000546334.2

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

Description

This sequence change affects a donor splice site in intron 25 of the DNAH5 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a DNAH5-related disease. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in DNAH5 are known to be pathogenic (PMID: 16627867, 11788826). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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

Last Updated: Jun 14, 2021

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