Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001369.3(DNAH5):c.5434del (p.Gln1812fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 4, 2014
Accession:
VCV001070628.1
Variation ID:
1070628
Description:
1bp deletion
Help

NM_001369.3(DNAH5):c.5434del (p.Gln1812fs)

Allele ID
1060278
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13841742 (GRCh38) GRCh38 UCSC
5: 13841851 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.13841851del
NC_000005.10:g.13841742del
NM_001369.3:c.5434del MANE Select NP_001360.1:p.Gln1812fs frameshift
NG_013081.2:g.107739del
Protein change
Q1812fs
Other names
-
Canonical SPDI
NC_000005.10:13841741:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 4, 2014 RCV001382829.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 04, 2014)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001581770.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change is novel. It has not been reported as a common polymorphism (>1% frequency) in the general population, and has not been reported … (more)

Functional evidence

Help
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

Help
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

Record last updated Jun 14, 2021