NM_001369.3(DNAH5):c.2431+5G>A AND Primary ciliary dyskinesia

Clinical significance:Uncertain significance (Last evaluated: Jan 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000311206.3

Allele description [Variation Report for NM_001369.3(DNAH5):c.2431+5G>A]

NM_001369.3(DNAH5):c.2431+5G>A

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.2431+5G>A
HGVS:
  • NC_000005.10:g.13894645C>T
  • NG_013081.2:g.54836G>A
  • NM_001369.2:c.2431+5G>A
  • NM_001369.3:c.2431+5G>AMANE SELECT
  • NC_000005.9:g.13894754C>T
Links:
dbSNP: rs369244905
NCBI 1000 Genomes Browser:
rs369244905
Molecular consequence:
  • NM_001369.2:c.2431+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369.3:c.2431+5G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000817546Invitaecriteria provided, single submitter
Uncertain significance
(Jan 8, 2018)
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, SCV000817546.1

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

Description

This sequence change falls in intron 16 of the DNAH5 gene. It does not directly change the encoded amino acid sequence of the DNAH5 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs369244905, ExAC 0.1%). This variant has not been reported in the literature in individuals with DNAH5-related disease. ClinVar contains an entry for this variant (Variation ID: 351201). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 25, 2021

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