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NM_001369.3(DNAH5):c.342C>T (p.Phe114=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000454765.5
Variation ID:
454765
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.342C>T (p.Phe114=)

Allele ID
454698
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13923376 (GRCh38) GRCh38 UCSC
5: 13923485 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.13923485G>A
NM_001369.2:c.342C>T NP_001360.1:p.Phe114= synonymous
NC_000005.10:g.13923376G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13923375:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00038
Exome Aggregation Consortium (ExAC) 0.00043
Trans-Omics for Precision Medicine (TOPMed) 0.00068
The Genome Aggregation Database (gnomAD) 0.00073
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00108
1000 Genomes Project 0.00080
Links
ClinGen: CA3205210
dbSNP: rs145920072
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 21, 2020 RCV000535661.4
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001156830.1
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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
Likely benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000624243.4
Submitted: (Jan 07, 2021)
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: SCV001318361.1
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)

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 rs145920072...

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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