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NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 16, 2021)
Last evaluated:
Mar 3, 2020
Accession:
VCV000178733.5
Variation ID:
178733
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His)

Allele ID
174209
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21842591 (GRCh38) GRCh38 UCSC
7: 21882209 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21882209G>A
NC_000007.14:g.21842591G>A
NG_012886.2:g.304377G>A
NM_001277115.2:c.10739G>A MANE Select NP_001264044.1:p.Arg3580His missense
Protein change
R3580H
Other names
-
Canonical SPDI
NC_000007.14:21842590:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00479 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00873
The Genome Aggregation Database (gnomAD) 0.00987
1000 Genomes Project 0.00479
Exome Aggregation Consortium (ExAC) 0.00851
Trans-Omics for Precision Medicine (TOPMed) 0.00897
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01159
Links
ClinGen: CA182904
dbSNP: rs34879202
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Jun 1, 2017 RCV000155493.2
Benign 1 criteria provided, single submitter Dec 30, 2019 RCV000228888.6
Benign 1 criteria provided, single submitter Mar 3, 2020 RCV001668315.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH11 - - GRCh38
GRCh37
1768 1867

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000205191.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Arg3580His in exon 66 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 1.5% (122/8230) of … (more)
Benign
(Dec 30, 2019)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000286971.6
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Mar 03, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001882766.1
Submitted: (Sep 16, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 27637300, 24450482)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307421.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000708993.2
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (1)
Other databases
http://www.egl-eurofins.com/emvc…

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
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. Boaretto F The Journal of molecular diagnostics : JMD 2016 PMID: 27637300
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DNAH11 - - - -

Text-mined citations for rs34879202...

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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 Sep 23, 2021