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NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 12, 2018
Accession:
VCV000454812.2
Variation ID:
454812
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His)

Allele ID
455046
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13780952 (GRCh38) GRCh38 UCSC
5: 13781061 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001369.2:c.8828G>A NP_001360.1:p.Arg2943His missense
NC_000005.10:g.13780952C>T
NC_000005.9:g.13781061C>T
... more HGVS
Protein change
R2943H
Other names
-
Canonical SPDI
NC_000005.10:13780951:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00006
The Genome Aggregation Database (gnomAD) 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00012
Exome Aggregation Consortium (ExAC) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00017
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00010
Links
ClinGen: CA3202698
dbSNP: rs184758570
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 23, 2017 RCV000528776.1
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001155771.1
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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
2415 2549

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 23, 2017)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000624305.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces arginine with histidine at codon 2943 of the DNAH5 protein (p.Arg2943His). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001317234.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs184758570...

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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 Nov 27, 2021