Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001277115.2(DNAH11):c.9640G>A (p.Ala3214Thr)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 5, 2018
Accession:
VCV000198018.2
Variation ID:
198018
Description:
single nucleotide variant
Help

NM_001277115.2(DNAH11):c.9640G>A (p.Ala3214Thr)

Allele ID
195179
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21786666 (GRCh38) GRCh38 UCSC
7: 21826284 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21826284G>A
NC_000007.14:g.21786666G>A
NM_001277115.2:c.9640G>A MANE Select NP_001264044.1:p.Ala3214Thr missense
NG_012886.2:g.248452G>A
Protein change
A3214T
Other names
-
Canonical SPDI
NC_000007.14:21786665:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00058
Trans-Omics for Precision Medicine (TOPMed) 0.00041
1000 Genomes Project 0.00060
Links
ClinGen: CA246500
dbSNP: rs141979671
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 12, 2014 RCV000179219.1
Uncertain significance 1 criteria provided, single submitter Nov 5, 2018 RCV000629407.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 05, 2018)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000750345.2
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces alanine with threonine at codon 3214 of the DNAH11 protein (p.Ala3214Thr). The alanine residue is highly conserved and there is a … (more)
Uncertain significance
(May 12, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000231430.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DNAH11 - - - -

Text-mined citations for rs141979671...

Help
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 Jun 14, 2021