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NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Aug 20, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV000221006.7
Variation ID:
221006
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)

Allele ID
221692
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21779089 (GRCh38) GRCh38 UCSC
7: 21818707 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21818707T>C
NC_000007.14:g.21779089T>C
NG_012886.2:g.240875T>C
NM_001277115.2:c.9468T>C MANE Select NP_001264044.1:p.Asp3156= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:21779088:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00190
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00273
The Genome Aggregation Database (gnomAD) 0.00299
Links
ClinGen: CA349149
dbSNP: rs201207627
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 29, 2016 RCV000252675.2
Likely benign 1 criteria provided, single submitter Feb 15, 2020 RCV001577340.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 30, 2020 RCV000204961.9
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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
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307605.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000262059.7
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Primary Ciliary Dyskinesia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468182.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Sep 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000701188.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Feb 15, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001804697.1
Submitted: (Aug 20, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 26302956)

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=DNAH11 - - - -

Text-mined citations for rs201207627...

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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