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NM_001369.3(DNAH5):c.13338del (p.Ala4447fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Jan 18, 2017
Accession:
VCV000454742.1
Variation ID:
454742
Description:
1bp deletion
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NM_001369.3(DNAH5):c.13338del (p.Ala4447fs)

Allele ID
455023
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13708123 (GRCh38) GRCh38 UCSC
5: 13708232 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001369.2:c.13338delA frameshift
NC_000005.10:g.13708128del
NC_000005.9:g.13708237del
... more HGVS
Protein change
A4447fs
Other names
-
Canonical SPDI
NC_000005.10:13708122:TTTTTT:TTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658657427
dbSNP: rs1554017211
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 Jan 18, 2017 RCV000556995.1
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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
(Jan 18, 2017)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000624216.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change deletes 1 nucleotide from exon 76 of the DNAH5 mRNA (c.13338delA), causing a frameshift at codon 4447. 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 rs1554017211...

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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 Oct 24, 2021