Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001369.2(DNAH5):c.5882+133A>G

Help
Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 20, 2014)
Accession:
VCV000140604.1
Variation ID:
140604
Description:
single nucleotide variant
Help

NM_001369.2(DNAH5):c.5882+133A>G

Allele ID
150296
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13839223 (GRCh38) GRCh38 UCSC
5: 13839332 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13839223T>C
NC_000005.9:g.13839332T>C
NM_001369.2:c.5882+133A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13839222:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00064
Trans-Omics for Precision Medicine (TOPMed) 0.00096
Links
ClinGen: CA269991
dbSNP: rs530043272
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided - RCV000128824.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
no assertion criteria provided
Method: research
Ciliary dyskinesia, primary, 3
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)
Study: Mutation analysis on patients with total sperm immotility
Accession: SCV000172484.1
Submitted: (May 20, 2014)
Evidence details
Comment:
Primary Ciliary Dyskinesia

Functional evidence

Help
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

Help
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 rs530043272...

Help
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 Apr 17, 2020