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NM_001277115.2(DNAH11):c.4377+15A>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 9, 2021)
Last evaluated:
Apr 10, 2019
Accession:
VCV000093687.4
Variation ID:
93687
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.4377+15A>G

Allele ID
99590
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21619237 (GRCh38) GRCh38 UCSC
7: 21658855 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21658855A>G
NC_000007.14:g.21619237A>G
NG_012886.2:g.81023A>G
NM_001277115.2:c.4377+15A>G MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:21619236:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.43810 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.48895
The Genome Aggregation Database (gnomAD) 0.50805
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.51261
Trans-Omics for Precision Medicine (TOPMed) 0.52073
1000 Genomes Project 0.56190
The Genome Aggregation Database (gnomAD), exomes 0.47286
Links
ClinGen: CA147209
dbSNP: rs57208694
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 May 9, 2013 RCV000079619.5
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000355786.2
Benign 1 criteria provided, single submitter Apr 10, 2019 RCV001618248.3
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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
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: SCV000307511.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Primary Ciliary Dyskinesia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468094.2
Submitted: (Oct 18, 2016)
Evidence details
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: SCV000197617.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
4377+15A>G in intron 24 of DNAH11: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus … (more)
Benign
(Apr 10, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001843519.1
Submitted: (Sep 09, 2021)
Evidence details
Benign
(May 09, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111502.8
Submitted: (Sep 19, 2018)
Evidence details
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DNAH11 - - - -

Text-mined citations for rs57208694...

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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