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_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 19, 2021)
Last evaluated:
Apr 19, 2021
Accession:
VCV000698807.7
Variation ID:
698807
Description:
single nucleotide variant
Help

NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu)

Allele ID
686629
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13769076 (GRCh38) GRCh38 UCSC
5: 13769185 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.13769185T>C
NM_001369.2:c.9781A>G NP_001360.1:p.Lys3261Glu missense
NC_000005.10:g.13769076T>C
... more HGVS
Protein change
K3261E
Other names
-
Canonical SPDI
NC_000005.10:13769075:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00035
The Genome Aggregation Database (gnomAD), exomes 0.00025
Trans-Omics for Precision Medicine (TOPMed) 0.00031
1000 Genomes Project 0.00060
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00026
Links
dbSNP: rs146215039
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 6, 2020 RCV000866370.3
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001157363.1
Uncertain significance 1 criteria provided, single submitter Apr 19, 2021 RCV001569850.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH5 - - GRCh38
GRCh37
2410 2544

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001318930.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001007455.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Apr 19, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001794008.1
Submitted: (Aug 19, 2021)
Evidence details
Comment:
Reported heterozygous using alternate nomenclature (K3162G) in a patient with heterotaxy and congenital heart disease but no second variant was identified (Li et al., 2018); … (more)

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
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 rs146215039...

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 Oct 30, 2021