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NM_001369.2(DNAH5):c.9637del (p.Ala3213fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 20, 2020
Accession:
VCV000548647.2
Variation ID:
548647
Description:
1bp deletion
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NM_001369.2(DNAH5):c.9637del (p.Ala3213fs)

Allele ID
539132
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13769584 (GRCh38) GRCh38 UCSC
5: 13769693 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.13769693del
NC_000005.10:g.13769584del
NM_001369.2:c.9637del NP_001360.1:p.Ala3213fs frameshift
... more HGVS
Protein change
A3213fs
Other names
-
Canonical SPDI
NC_000005.10:13769583:C:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs1305797678
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Jun 20, 2020 RCV000662280.2
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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 20, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001586554.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Ala3213Leufs*8) in the DNAH5 gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Jun 06, 2014)
no assertion criteria provided
Method: literature only
None
Allele origin: de novo
Yale Center for Mendelian Genomics,Yale University
Accession: SCV000784608.1
Submitted: (Nov 27, 2017)
Evidence details
Publications
PubMed (1)

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
The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. Shapiro AJ Cardiology in the young 2015 PMID: 24905662
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 rs1305797678...

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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