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NM_001369.3(DNAH5):c.10604_10608dup (p.Glu3537fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 27, 2020
Accession:
VCV001071663.1
Variation ID:
1071663
Description:
5bp duplication
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NM_001369.3(DNAH5):c.10604_10608dup (p.Glu3537fs)

Allele ID
1060254
Variant type
Duplication
Variant length
5 bp
Cytogenetic location
5p15.2
Genomic location
5: 13753496-13753497 (GRCh38) GRCh38 UCSC
5: 13753605-13753606 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13753498_13753502dup
NC_000005.9:g.13753607_13753611dup
NM_001369.3:c.10604_10608dup MANE Select NP_001360.1:p.Glu3537fs frameshift
NG_013081.2:g.195980_195984dup
Protein change
E3537fs
Other names
-
Canonical SPDI
NC_000005.10:13753496:TTGGTT:TTGGTTTGGTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Aug 27, 2020 RCV001384182.1
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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
2404 2538

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 27, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001583569.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Glu3537Thrfs*9) in the DNAH5 gene. It is expected to result in an absent or disrupted protein … (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
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

Record last updated Jun 14, 2021