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NM_001369.2(DNAH5):c.2260-1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Mar 5, 2018
Accession:
VCV000566548.1
Variation ID:
566548
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.2260-1G>A

Allele ID
562837
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13894822 (GRCh38) GRCh38 UCSC
5: 13894931 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.13894931C>T
NC_000005.10:g.13894822C>T
NM_001369.2:c.2260-1G>A splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13894821:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1561524235
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 5, 2018 RCV000686385.1
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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
Likely pathogenic
(Mar 05, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000813902.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 15 of the DNAH5 gene. It is expected to disrupt RNA splicing and likely results … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
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
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Olbrich H Nature genetics 2002 PMID: 11788826

Text-mined citations for rs1561524235...

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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