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NM_001369.2(DNAH5):c.8498G>A (p.Arg2833His)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 27, 2020
Accession:
VCV000454809.4
Variation ID:
454809
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.8498G>A (p.Arg2833His)

Allele ID
455086
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13788865 (GRCh38) GRCh38 UCSC
5: 13788974 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13788865C>T
NC_000005.9:g.13788974C>T
NM_001369.2:c.8498G>A NP_001360.1:p.Arg2833His missense
... more HGVS
Protein change
R2833H
Other names
-
Canonical SPDI
NC_000005.10:13788864:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA3202796
dbSNP: rs753130398
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 Jun 27, 2020 RCV000535963.5
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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
(Jun 27, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000624300.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces arginine with histidine at codon 2833 of the DNAH5 protein (p.Arg2833His). The arginine residue is highly conserved and there is a … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. Boaretto F The Journal of molecular diagnostics : JMD 2016 PMID: 27637300
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. Djakow J Pediatric pulmonology 2016 PMID: 26228299
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Zariwala MA American journal of human genetics 2013 PMID: 23891469

Text-mined citations for rs753130398...

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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