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NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 30, 2020
Accession:
VCV000238981.7
Variation ID:
238981
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)

Allele ID
239738
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13841763 (GRCh38) GRCh38 UCSC
5: 13841872 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.13841872G>A
NM_001369.2:c.5413C>T NP_001360.1:p.Arg1805Cys missense
NC_000005.10:g.13841763G>A
... more HGVS
Protein change
R1805C
Other names
-
Canonical SPDI
NC_000005.10:13841762:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00012
The Genome Aggregation Database (gnomAD) 0.00029
The Genome Aggregation Database (gnomAD), exomes 0.00010
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00035
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Links
ClinGen: CA3203683
dbSNP: rs142155986
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, multiple submitters, no conflicts Jan 13, 2018 RCV000669971.2
Uncertain significance 2 criteria provided, single submitter Sep 30, 2020 RCV000227953.5
Uncertain significance 1 no assertion criteria provided - RCV001327951.1
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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
(Sep 30, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000287088.5
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 1805 of the DNAH5 protein (p.Arg1805Cys). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(Oct 16, 2017)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: unknown
Counsyl
Accession: SCV000794774.1
Submitted: (Jul 10, 2018)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001319402.1
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
(-)
no assertion criteria provided
Method: provider interpretation
Infertility
Allele origin: germline
MAGI's Lab - Research,MAGI Group
Accession: SCV001432729.1
Submitted: (Sep 15, 2020)
Evidence details
Uncertain significance
(Jan 06, 2020)
no assertion criteria provided
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Natera, Inc.
Accession: SCV001457562.1
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 rs142155986...

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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 30, 2021