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NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 19, 2020
Accession:
VCV000289324.5
Variation ID:
289324
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)

Allele ID
273561
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21710596 (GRCh38) GRCh38 UCSC
7: 21750214 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21750214C>T
NC_000007.14:g.21710596C>T
NG_012886.2:g.172382C>T
NM_001277115.2:c.6727C>T MANE Select NP_001264044.1:p.Arg2243Ter nonsense
Protein change
R2243*
Other names
-
Canonical SPDI
NC_000007.14:21710595:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD) 0.00010
Exome Aggregation Consortium (ExAC) 0.00012
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00008
Links
ClinGen: CA4180969
dbSNP: rs201943194
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 17, 2018 RCV000726312.2
Pathogenic 1 criteria provided, single submitter May 14, 2016 RCV000289819.4
Pathogenic 1 criteria provided, single submitter Oct 19, 2020 RCV000461399.5

Clinical features observed in individuals with this variant

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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
1769 1868

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 12, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343671.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(May 14, 2016)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 7
(Autosomal recessive inheritance)
Allele origin: maternal
Undiagnosed Diseases Network,NIH
Accession: SCV000622140.1
Submitted: (Aug 04, 2017)
Evidence details
Comment:
For this patient, the lab reported the c.6727C>T (p.R2243X) variant as pathogenic and the c.2966G>A (p.R989Q) as a VUS. Sent a nasal biopsy for ciliary … (more)
Likely pathogenic
(Oct 17, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000890648.1
Submitted: (Mar 13, 2019)
Evidence details
Comment:
The R2243X variant in the DNAH11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This … (more)
Pathogenic
(Oct 19, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000551752.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Arg2243*) in the DNAH11 gene. It is expected to result in an absent or disrupted protein … (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
Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia. Lai M Journal of medical genetics 2016 PMID: 26729821
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Knowles MR Thorax 2012 PMID: 22184204
New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. Pifferi M The European respiratory journal 2010 PMID: 20513915
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Schwabe GC Human mutation 2008 PMID: 18022865
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DNAH11 - - - -

Text-mined citations for rs201943194...

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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 29, 2021