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NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 26, 2021)
Last evaluated:
Oct 27, 2020
Accession:
VCV000977578.3
Variation ID:
977578
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)

Allele ID
965679
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13829646 (GRCh38) GRCh38 UCSC
5: 13829755 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13829646G>T
NC_000005.9:g.13829755G>T
NM_001369.3:c.6308C>A MANE Select NP_001360.1:p.Ser2103Ter nonsense
... more HGVS
Protein change
S2103*
Other names
-
Canonical SPDI
NC_000005.10:13829645:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 27, 2020 RCV001255288.2
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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
2404 2538

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001579159.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Ser2103*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Jul 05, 2018)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
Accession: SCV001431722.2
Submitted: (Aug 26, 2021)
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
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
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Olbrich H Nature genetics 2002 PMID: 11788826

Record last updated Aug 27, 2021