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NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Apr 30, 2013)
Last evaluated:
Sep 15, 2011
Accession:
VCV000006474.3
Variation ID:
6474
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)

Allele ID
21513
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21748602 (GRCh38) GRCh38 UCSC
7: 21788220 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21788220C>T
NC_000007.14:g.21748602C>T
NG_012886.2:g.210388C>T
... more HGVS
Protein change
R2845*
Other names
R2852*
Canonical SPDI
NC_000007.14:21748601:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (G)

Allele frequency
-
Links
ClinGen: CA340592
OMIM: 603339.0001
dbSNP: rs121908854
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 15, 2011 RCV000006847.7
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS
Pathogenic 1 no assertion criteria provided Aug 6, 2002 RCV000590992.3
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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
pathologic
(Sep 15, 2011)
no assertion criteria provided
Method: curation
Primary Ciliary Dyskinesia
Allele origin: not provided
GeneReviews
Accession: SCV000086901.1
Submitted: (Apr 30, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Aug 06, 2002)
no assertion criteria provided
Method: literature only
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS
Allele origin: germline
OMIM
Accession: SCV000027043.5
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

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
Primary Ciliary Dyskinesia Zariwala MA - 2019 PMID: 20301301
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Bartoloni L Proceedings of the National Academy of Sciences of the United States of America 2002 PMID: 12142464
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Pan Y American journal of human genetics 1998 PMID: 9585585

Text-mined citations for rs121908854...

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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