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NM_001369.2(DNAH5):c.9365del (p.Ala3121_Leu3122insTer)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 30, 2018
Accession:
VCV000225341.2
Variation ID:
225341
Description:
1bp deletion
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NM_001369.2(DNAH5):c.9365del (p.Ala3121_Leu3122insTer)

Allele ID
227278
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13776447 (GRCh38) GRCh38 UCSC
5: 13776556 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13776449del
NC_000005.9:g.13776558del
NM_001369.2:c.9365del NP_001360.1:p.Ala3121_Leu3122insTer nonsense
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13776446:AAA:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16609697
dbSNP: rs1060501460
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 30, 2018 RCV000465747.2
Likely pathogenic 1 criteria provided, single submitter Mar 18, 2016 RCV000490388.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH5 - - GRCh38
GRCh37
2404 2538

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 30, 2018)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000546322.3
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change deletes 1 nucleotide from exon 55 of the DNAH5 mRNA (c.9365delT), causing a frameshift at codon 3122. This creates a premature translational … (more)
Likely pathogenic
(Mar 18, 2016)
criteria provided, single submitter
Method: reference population
Ciliary dyskinesia, primary, 3
Allele origin: germline
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
Accession: SCV000267293.1
Submitted: (Apr 14, 2016)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Hornef N American journal of respiratory and critical care medicine 2006 PMID: 16627867
Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Ibañez-Tallon I Human molecular genetics 2002 PMID: 11912187
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Olbrich H Nature genetics 2002 PMID: 11788826

Text-mined citations for rs1060501460...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021