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NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 21, 2021)
Last evaluated:
Jul 30, 2021
Accession:
VCV000163121.11
Variation ID:
163121
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu)

Allele ID
174075
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21854375 (GRCh38) GRCh38 UCSC
7: 21893993 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q96DT5:p.Val3708Leu
NC_000007.13:g.21893993G>T
NC_000007.14:g.21854375G>T
... more HGVS
Protein change
V3708L
Other names
-
Canonical SPDI
NC_000007.14:21854374:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.45947 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.59899
The Genome Aggregation Database (gnomAD), exomes 0.57053
1000 Genomes Project 0.45947
Trans-Omics for Precision Medicine (TOPMed) 0.55951
The Genome Aggregation Database (gnomAD) 0.56743
Exome Aggregation Consortium (ExAC) 0.57047
Links
ClinGen: CA175749
UniProtKB: Q96DT5#VAR_013861
dbSNP: rs4722064
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Feb 21, 2013 RCV000150452.6
Benign 2 criteria provided, multiple submitters, no conflicts Nov 27, 2020 RCV000366779.5
Benign 1 criteria provided, single submitter Jul 30, 2021 RCV001657854.2
Benign 1 criteria provided, single submitter Nov 10, 2018 RCV001705982.1
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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
1768 1867

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 30, 2021)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 7
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001875574.1
Submitted: (Sep 11, 2021)
Evidence details
Benign
(Nov 10, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001886035.1
Submitted: (Sep 17, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307425.1
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: SCV000468200.2
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: SCV000197638.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Val3708Leu in exon 68 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 42.1% (1548/3680) of … (more)
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001000042.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001740415.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001966679.1
Submitted: (Sep 21, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs4722064...

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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 07, 2021