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NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
May 22, 2019
Accession:
VCV000179699.4
Variation ID:
179699
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)

Allele ID
173691
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13810166 (GRCh38) GRCh38 UCSC
5: 13810275 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q8TE73:p.Arg2501Pro
NC_000005.9:g.13810275C>G
NC_000005.10:g.13810166C>G
... more HGVS
Protein change
R2501P
Other names
-
Canonical SPDI
NC_000005.10:13810165:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Exome Aggregation Consortium (ExAC) 0.00039
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD) 0.00011
Links
ClinGen: CA184953
UniProtKB: Q8TE73#VAR_030708
dbSNP: rs78853309
VarSome
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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 22, 2019 RCV000156495.2
Uncertain significance 2 criteria provided, single submitter Feb 23, 2018 RCV000556129.4
Uncertain significance 1 criteria provided, single submitter Sep 21, 2016 RCV000778752.1
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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
2415 2549

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 22, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000206214.5
Submitted: (Jun 03, 2020)
Evidence details
Publications
PubMed (3)
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Uncertain significance
(Feb 23, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000624290.3
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces arginine with proline at codon 2501 of the DNAH5 protein (p.Arg2501Pro). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(Sep 21, 2016)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915116.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (3)
Comment:
The DNAH5 c.7502G>C (p.Arg2501Pro) variant is a missense variant that has been reported in a total of three individuals with primary ciliary dyskinesia, two of … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Natera, Inc.
Accession: SCV001452283.1
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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Fedick AM Molecular genetics & genomic medicine 2015 PMID: 25802884
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. Failly M Journal of medical genetics 2009 PMID: 19357118
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Hornef N American journal of respiratory and critical care medicine 2006 PMID: 16627867

Text-mined citations for rs78853309...

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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 Dec 04, 2021