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NM_001369.2(DNAH5):c.7609+19C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 21, 2021)
Last evaluated:
Jun 15, 2021
Accession:
VCV000197516.7
Variation ID:
197516
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.7609+19C>T

Allele ID
194677
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13810040 (GRCh38) GRCh38 UCSC
5: 13810149 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13810040G>A
NC_000005.9:g.13810149G>A
NG_013081.1:g.139441C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13810039:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.40675 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.34981
The Genome Aggregation Database (gnomAD), exomes 0.39287
Exome Aggregation Consortium (ExAC) 0.38703
The Genome Aggregation Database (gnomAD) 0.38011
Trans-Omics for Precision Medicine (TOPMed) 0.39126
1000 Genomes Project 0.40675
Links
ClinGen: CA202927
dbSNP: rs35732567
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Mar 16, 2016 RCV000178569.6
Benign 1 criteria provided, single submitter Jun 15, 2021 RCV001527531.1
Benign 1 criteria provided, single submitter Nov 11, 2018 RCV001689717.1
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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
Benign
(Nov 11, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001910724.1
Submitted: (Sep 21, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307817.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 16, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230678.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jun 15, 2021)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Pars Genome Lab
Accession: SCV001738604.1
Submitted: (Jun 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001967892.1
Submitted: (Sep 21, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742955.3
Submitted: (Sep 02, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DNAH5 - - - -

Text-mined citations for rs35732567...

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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 Oct 07, 2021