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NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 26, 2021)
Last evaluated:
Mar 28, 2020
Accession:
VCV000265361.6
Variation ID:
265361
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)

Allele ID
259810
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13754317 (GRCh38) GRCh38 UCSC
5: 13754426 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.13754426G>A
NM_001369.2:c.10441C>T NP_001360.1:p.Arg3481Ter nonsense
NC_000005.10:g.13754317G>A
... more HGVS
Protein change
R3481*
Other names
-
Canonical SPDI
NC_000005.10:13754316:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA10588392
dbSNP: rs886039500
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 28, 2020 RCV001216552.3
Pathogenic 1 criteria provided, single submitter Oct 29, 2015 RCV000255126.1
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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
2410 2544

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 29, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000322172.6
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R3481X variant in the DNAH5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This … (more)
Pathogenic
(Mar 28, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001388355.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Arg3481*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Nov 08, 2018)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
Accession: SCV001431580.2
Submitted: (Aug 26, 2021)
Evidence details

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
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Raidt J The European respiratory journal 2014 PMID: 25186273
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
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Olbrich H Nature genetics 2002 PMID: 11788826

Text-mined citations for rs886039500...

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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 Oct 30, 2021