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NM_002234.4(KCNA5):c.622G>T (p.Glu208Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 9, 2019
Accession:
VCV000657442.3
Variation ID:
657442
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.622G>T (p.Glu208Ter)

Allele ID
641190
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5044769 (GRCh38) GRCh38 UCSC
12: 5153935 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5153935G>T
NC_000012.12:g.5044769G>T
NG_012198.1:g.5851G>T
NM_002234.4:c.622G>T MANE Select NP_002225.2:p.Glu208Ter nonsense
Protein change
E208*
Other names
-
Canonical SPDI
NC_000012.12:5044768:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00004
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs745920419
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 9, 2019 RCV000814042.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNA5 - - GRCh38
GRCh37
262 321

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(May 09, 2019)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000954434.3
Submitted: (Jan 07, 2021)
Publications:
PubMed (2)
PubMed: 2495066824936649
Comment:
This sequence change results in a premature translational stop signal in the KCNA5 gene (p.Glu208*). While this is not anticipated to result in nonsense mediated … (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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Title Author Journal Year Link
Clinical and molecular study of 4 cases of pulmonary hypertension associated with sarcoidosis. Baloira Villar A Archivos de bronconeumologia 2015 PMID: 24950668
Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. Pousada G PloS one 2014 PMID: 24936649

Text-mined citations for rs745920419...

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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 Jan 08, 2022