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NM_001369.2(DNAH5):c.5881dup (p.Arg1961fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Dec 15, 2017
Accession:
VCV000525430.1
Variation ID:
525430
Description:
1bp duplication
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NM_001369.2(DNAH5):c.5881dup (p.Arg1961fs)

Allele ID
521020
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13839356-13839357 (GRCh38) GRCh38 UCSC
5: 13839465-13839466 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13839357dup
NC_000005.9:g.13839466dup
NM_001369.2:c.5881dup NP_001360.1:p.Arg1961fs frameshift
... more HGVS
Protein change
R1961fs
Other names
-
Canonical SPDI
NC_000005.10:13839356:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658796500
dbSNP: rs1554072027
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 Dec 15, 2017 RCV000629486.1
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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
(Dec 15, 2017)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000750430.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Arg1961Lysfs*31) 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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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 rs1554072027...

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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