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NM_001369.2(DNAH5):c.1517dup (p.Asp506fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Mar 22, 2017
Accession:
VCV000454749.1
Variation ID:
454749
Description:
1bp duplication
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NM_001369.2(DNAH5):c.1517dup (p.Asp506fs)

Allele ID
455437
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13913761-13913762 (GRCh38) GRCh38 UCSC
5: 13913870-13913871 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13913762dup
NC_000005.9:g.13913871dup
NM_001369.2:c.1517dup NP_001360.1:p.Asp506fs frameshift
... more HGVS
Protein change
D506fs
Other names
-
Canonical SPDI
NC_000005.10:13913761:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658657431
dbSNP: rs1554101045
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 22, 2017 RCV000548482.1
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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
(Mar 22, 2017)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000624224.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change inserts 1 nucleotide in exon 11 of the DNAH5 mRNA (c.1517dupA), causing a frameshift at codon 506. 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 rs1554101045...

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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