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NM_001369.3(DNAH5):c.5883-1G>C

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 20, 2020
Accession:
VCV001070599.1
Variation ID:
1070599
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.5883-1G>C

Allele ID
1060274
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13830776 (GRCh38) GRCh38 UCSC
5: 13830885 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13830776C>G
NC_000005.9:g.13830885C>G
NM_001369.3:c.5883-1G>C MANE Select splice acceptor
NG_013081.2:g.118705G>C
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13830775:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Oct 20, 2020 RCV001382794.1
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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
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001581699.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 35 of the DNAH5 gene. It is expected to disrupt RNA splicing. Variants that disrupt … (more)

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
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Olbrich H Nature genetics 2002 PMID: 11788826

Record last updated Jun 14, 2021