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NM_001369.2(DNAH5):c.9721-12A>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 21, 2021)
Last evaluated:
Jul 30, 2021
Accession:
VCV000167003.9
Variation ID:
167003
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.9721-12A>T

Allele ID
173550
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13769148 (GRCh38) GRCh38 UCSC
5: 13769257 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13769148T>A
NC_000005.9:g.13769257T>A
NG_013081.1:g.180333A>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13769147:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.32468 (A)

Allele frequency
1000 Genomes Project 0.32468
Exome Aggregation Consortium (ExAC) 0.33894
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.36114
The Genome Aggregation Database (gnomAD), exomes 0.33940
The Genome Aggregation Database (gnomAD) 0.34209
Trans-Omics for Precision Medicine (TOPMed) 0.35382
Links
ClinGen: CA179979
dbSNP: rs12655133
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 5 criteria provided, multiple submitters, no conflicts Feb 18, 2014 RCV000153160.8
Benign 3 criteria provided, multiple submitters, no conflicts Jul 30, 2021 RCV000339742.4
Benign 1 criteria provided, single submitter Nov 10, 2018 RCV001675640.2
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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
(Feb 18, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202627.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Feb 21, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205203.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
9721-12A>T in intron 57 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 37.8% (3248/8600) of European … (more)
Benign
(Jul 30, 2021)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001875593.1
Submitted: (Sep 11, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307839.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000453063.3
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)
Benign
(Jun 15, 2021)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Pars Genome Lab
Accession: SCV001738601.1
Submitted: (Jun 23, 2021)
Evidence details
Benign
(Nov 10, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001895554.1
Submitted: (Sep 18, 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: SCV001972211.1
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: SCV001740389.3
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 rs12655133...

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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