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NM_001369.2(DNAH5):c.7915C>T (p.Arg2639Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 9, 2020)
Last evaluated:
Mar 27, 2018
Accession:
VCV000520775.2
Variation ID:
520775
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.7915C>T (p.Arg2639Ter)

Allele ID
511556
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13794031 (GRCh38) GRCh38 UCSC
5: 13794140 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13794031G>A
NC_000005.9:g.13794140G>A
NM_001369.2:c.7915C>T NP_001360.1:p.Arg2639Ter nonsense
... more HGVS
Protein change
R2639*
Other names
-
Canonical SPDI
NC_000005.10:13794030:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00004
Links
ClinGen: CA3202956
dbSNP: rs375053470
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 5, 2015 RCV000622966.1
Pathogenic 1 criteria provided, single submitter Mar 27, 2018 RCV000629487.2

Clinical features observed in individuals with this variant

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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
(Mar 27, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000750431.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Arg2639*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Oct 05, 2015)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000741043.2
Submitted: (Oct 09, 2020)
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
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
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Olbrich H Nature genetics 2002 PMID: 11788826

Text-mined citations for rs375053470...

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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