NM_001369.3(DNAH5):c.57_57+1delinsAA AND Ciliary dyskinesia, primary, 3

Clinical significance:Uncertain significance (Last evaluated: Oct 10, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001369.3(DNAH5):c.57_57+1delinsAA]


DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
  • NC_000005.10:g.13944381_13944382delinsTT
  • NG_013081.2:g.5099_5100delinsAA
  • NM_001369.3:c.57_57+1delinsAAMANE SELECT
  • NC_000005.9:g.13944490_13944491delinsTT
  • NM_001369.2:c.57_57+1delGGinsAA
dbSNP: rs1560984816
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001369.3:c.57_57+1delinsAA - splice donor variant - [Sequence Ontology: SO:0001575]


Ciliary dyskinesia, primary, 3 (CILD3)
MONDO: MONDO:0012085; MedGen: C1837618; Orphanet: 244; OMIM: 608644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000916088Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Oct 10, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000916088.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


This variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease.

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

Last Updated: Nov 27, 2021

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