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NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000227324.5
Variation ID:
227324
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=)

Allele ID
229267
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13871628 (GRCh38) GRCh38 UCSC
5: 13871737 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.13871737G>A
NC_000005.10:g.13871628G>A
NG_013081.2:g.77853C>T
NM_001369.3:c.3534C>T MANE Select NP_001360.1:p.Asn1178= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13871627:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00050
The Genome Aggregation Database (gnomAD), exomes 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00045
Trans-Omics for Precision Medicine (TOPMed) 0.00055
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00032
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
The Genome Aggregation Database (gnomAD) 0.00046
Links
ClinGen: CA3204242
dbSNP: rs151274810
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 9, 2015 RCV000219413.2
Likely benign 1 criteria provided, single submitter Dec 6, 2020 RCV000553639.4
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001156531.1
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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
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307747.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Dec 09, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270147.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Asn1178Asn in exon 23 of DNAH5: This variant is not expected to have clinical significance because it does not alter an amino acid residue and … (more)
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: SCV001318033.1
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: SCV000624247.4
Submitted: (Jan 07, 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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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 rs151274810...

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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