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NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 14, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000093685.7
Variation ID:
93685
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=)

Allele ID
99588
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21599954 (GRCh38) GRCh38 UCSC
7: 21639572 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21639572A>G
NC_000007.14:g.21599954A>G
NG_012886.2:g.61740A>G
NM_001277115.2:c.2835A>G MANE Select NP_001264044.1:p.Gln945= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:21599953:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.07588 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.06831
Trans-Omics for Precision Medicine (TOPMed) 0.06991
Exome Aggregation Consortium (ExAC) 0.05036
The Genome Aggregation Database (gnomAD) 0.07042
1000 Genomes Project 0.07588
The Genome Aggregation Database (gnomAD), exomes 0.04694
Links
ClinGen: CA147207
dbSNP: rs17144747
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 Mar 5, 2015 RCV000079617.7
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000332826.5
Benign 1 criteria provided, single submitter Dec 31, 2018 RCV001705732.1
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307484.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 05, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111500.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 31, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001868357.1
Submitted: (Sep 14, 2021)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Primary Ciliary Dyskinesia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468076.2
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: SCV000205181.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Gln945Gln in exon 15 of DNAH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001000522.3
Submitted: (Jan 07, 2021)
Evidence details

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 rs17144747...

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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 Oct 16, 2021