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NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
Jan 12, 2018
Accession:
VCV000454724.3
Variation ID:
454724
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val)

Allele ID
454614
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13766056 (GRCh38) GRCh38 UCSC
5: 13766165 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001369.2:c.10021C>G NP_001360.1:p.Leu3341Val missense
NC_000005.10:g.13766056G>C
NC_000005.9:g.13766165G>C
... more HGVS
Protein change
L3341V
Other names
-
Canonical SPDI
NC_000005.10:13766055:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA3202353
dbSNP: rs751746139
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Apr 17, 2017 RCV000546641.2
Uncertain significance 1 criteria provided, single submitter - RCV000735389.1
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001155679.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH5 - - GRCh38
GRCh37
2410 2544

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 17, 2017)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000624192.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces leucine with valine at codon 3341 of the DNAH5 protein (p.Leu3341Val). The leucine residue is weakly conserved and there is a … (more)
Uncertain significance
(-)
criteria provided, single submitter
Method: clinical testing
Anomalous origin of coronary artery from the pulmonary artery
Clinodactyly of the 5th finger
Cough
Allele origin: germline
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles
Accession: SCV000854544.1
Submitted: (Nov 19, 2018)
Evidence details
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: SCV001317129.1
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)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Natera, Inc.
Accession: SCV001452268.1
Submitted: (Dec 28, 2020)
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 rs751746139...

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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 Nov 27, 2021