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NM_001369.3(DNAH5):c.2431+5G>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000351201.3
Variation ID:
351201
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.2431+5G>A

Allele ID
301157
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13894645 (GRCh38) GRCh38 UCSC
5: 13894754 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13894645C>T
NC_000005.9:g.13894754C>T
NG_013081.2:g.54836G>A
NM_001369.3:c.2431+5G>A MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13894644:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00038
Trans-Omics for Precision Medicine (TOPMed) 0.00026
Trans-Omics for Precision Medicine (TOPMed) 0.00034
The Genome Aggregation Database (gnomAD), exomes 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00026
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00009
Links
ClinGen: CA3204595
dbSNP: rs369244905
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 8, 2018 RCV000311206.3
Uncertain significance 1 criteria provided, single submitter Apr 28, 2017 RCV000489824.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001095051.1
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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
2415 2549

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 08, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000817546.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change falls in intron 16 of the DNAH5 gene. It does not directly change the encoded amino acid sequence of the DNAH5 protein, … (more)
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000576553.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.2431+5G>A variant in the DNAH5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000453254.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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

Text-mined citations for rs369244905...

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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 Dec 04, 2021