Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001369.2(DNAH5):c.559G>T (p.Glu187Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2017)
Last evaluated:
Nov 19, 2016
Accession:
VCV000407216.1
Variation ID:
407216
Description:
single nucleotide variant
Help

NM_001369.2(DNAH5):c.559G>T (p.Glu187Ter)

Allele ID
395406
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13922208 (GRCh38) GRCh38 UCSC
5: 13922317 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13922208C>A
NC_000005.9:g.13922317C>A
NM_001369.2:c.559G>T NP_001360.1:p.Glu187Ter nonsense
... more HGVS
Protein change
E187*
Other names
-
Canonical SPDI
NC_000005.10:13922207:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16612017
dbSNP: rs759059925
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 19, 2016 RCV000465113.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 19, 2016)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000546299.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change creates a premature translational stop signal at codon 187 (p.Glu187*) of the DNAH5 gene. It is expected to result in an absent … (more)

Functional evidence

Help
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

Help
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 rs759059925...

Help
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 Jun 14, 2021