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NM_001277115.2(DNAH11):c.8362C>G (p.His2788Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(4);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 9, 2021)
Last evaluated:
Jan 20, 2021
Accession:
VCV000238934.7
Variation ID:
238934
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.8362C>G (p.His2788Asp)

Allele ID
240055
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21744915 (GRCh38) GRCh38 UCSC
7: 21784533 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21784533C>G
NC_000007.14:g.21744915C>G
NG_012886.2:g.206701C>G
NM_001277115.2:c.8362C>G MANE Select NP_001264044.1:p.His2788Asp missense
Protein change
H2788D
Other names
-
Canonical SPDI
NC_000007.14:21744914:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00359 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00167
1000 Genomes Project 0.00359
Trans-Omics for Precision Medicine (TOPMed) 0.00457
The Genome Aggregation Database (gnomAD), exomes 0.00094
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00471
The Genome Aggregation Database (gnomAD) 0.00427
Links
ClinGen: CA4181580
dbSNP: rs147478795
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jan 2, 2018 RCV000249481.2
Benign 1 criteria provided, single submitter Jan 20, 2021 RCV001706254.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 27, 2020 RCV000230780.10
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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
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307587.1
Submitted: (Apr 28, 2016)
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: SCV000468159.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Aug 27, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000287023.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 02, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000859025.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 20, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001844206.1
Submitted: (Sep 09, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 24450482)

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 rs147478795...

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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