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NM_001369.2(DNAH5):c.36T>G (p.His12Gln)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Sep 22, 2021)
Last evaluated:
Jul 30, 2021
Accession:
VCV000178760.13
Variation ID:
178760
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.36T>G (p.His12Gln)

Allele ID
173571
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13944403 (GRCh38) GRCh38 UCSC
5: 13944512 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13944403A>C
NC_000005.9:g.13944512A>C
NG_013081.1:g.5078T>G
... more HGVS
Protein change
H12Q
Other names
-
Canonical SPDI
NC_000005.10:13944402:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.08706 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.92195
Exome Aggregation Consortium (ExAC) 0.93580
The Genome Aggregation Database (gnomAD) 0.93104
1000 Genomes Project 0.91294
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.92557
The Genome Aggregation Database (gnomAD), exomes 0.93600
Links
ClinGen: CA182954
UniProtKB: Q8TE73#VAR_019603
dbSNP: rs339445
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 Feb 21, 2013 RCV000155520.6
Benign 3 criteria provided, multiple submitters, no conflicts Jul 30, 2021 RCV001095038.4
Benign 2 criteria provided, single submitter Nov 25, 2020 RCV000303227.6
Benign 1 criteria provided, single submitter Nov 10, 2018 RCV001706051.1
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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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000453294.3
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
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307749.1
Submitted: (Apr 28, 2016)
Evidence details
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: SCV000205219.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
His12Gln in exon 1 of DNAH5: This variant is not expected to have clinical signi ficance because it has been identified in 10.6% (469/4406) of … (more)
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001000253.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Nov 10, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001915713.1
Submitted: (Sep 22, 2021)
Evidence details
Benign
(Jun 15, 2021)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Pars Genome Lab
Accession: SCV001738566.1
Submitted: (Jun 23, 2021)
Evidence details
Benign
(Jul 30, 2021)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001875604.1
Submitted: (Sep 11, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Natera, Inc.
Accession: SCV001462549.1
Submitted: (Dec 28, 2020)
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: SCV001741596.3
Submitted: (Sep 02, 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: SCV001973496.1
Submitted: (Sep 21, 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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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 rs339445...

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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