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NM_001369.2(DNAH5):c.10910del (p.Leu3637fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2017)
Last evaluated:
Sep 9, 2016
Accession:
VCV000407260.1
Variation ID:
407260
Description:
1bp deletion
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NM_001369.2(DNAH5):c.10910del (p.Leu3637fs)

Allele ID
394822
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13752252 (GRCh38) GRCh38 UCSC
5: 13752361 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13752252del
NC_000005.9:g.13752361del
NM_001369.2:c.10910del NP_001360.1:p.Leu3637fs frameshift
... more HGVS
Protein change
L3637fs
Other names
-
Canonical SPDI
NC_000005.10:13752251:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA3202099
dbSNP: rs769691189
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 Sep 9, 2016 RCV000467540.1
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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
(Sep 09, 2016)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000546351.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change deletes 1 nucleotide from exon 64 of the DNAH5 mRNA (c.10910delT), causing a frameshift at codon 3637. This creates a premature translational … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs769691189...

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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