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NM_001369.2(DNAH5):c.6335_6336insT (p.Gln2112fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 14, 2020
Accession:
VCV000220402.4
Variation ID:
220402
Description:
1bp insertion
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NM_001369.2(DNAH5):c.6335_6336insT (p.Gln2112fs)

Allele ID
221598
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13829618-13829619 (GRCh38) GRCh38 UCSC
5: 13829727-13829728 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13829618_13829619insA
NC_000005.9:g.13829727_13829728insA
NM_001369.2:c.6335_6336insT NP_001360.1:p.Gln2112fs frameshift
... more HGVS
Protein change
Q2112fs
Other names
-
Canonical SPDI
NC_000005.10:13829618::A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA350172
dbSNP: rs779506456
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 Mar 14, 2020 RCV000206107.4
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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 14, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000260911.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Gln2112Hisfs*10) 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

Text-mined citations for rs779506456...

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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