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NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000167000.5
Variation ID:
167000
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val)

Allele ID
177249
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21852546 (GRCh38) GRCh38 UCSC
7: 21892164 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21892164C>T
NC_000007.14:g.21852546C>T
NG_012886.2:g.314332C>T
NM_001277115.2:c.10976C>T MANE Select NP_001264044.1:p.Ala3659Val missense
Protein change
A3659V
Other names
-
Canonical SPDI
NC_000007.14:21852545:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00439 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00166
Trans-Omics for Precision Medicine (TOPMed) 0.00185
1000 Genomes Project 0.00439
Links
ClinGen: CA179975
dbSNP: rs150631721
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 Apr 3, 2014 RCV000153157.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 27, 2020 RCV000271550.5
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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
(Apr 03, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202624.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Primary Ciliary Dyskinesia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468198.2
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: SCV000268991.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ala3659Val in exon 67 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 3.0% (6/200) of … (more)
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000750520.4
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 rs150631721...

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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 24, 2021