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NM_002234.4(KCNA5):c.68G>A (p.Arg23Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 11, 2020
Accession:
VCV001001400.1
Variation ID:
1001400
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.68G>A (p.Arg23Gln)

Allele ID
995248
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5044215 (GRCh38) GRCh38 UCSC
12: 5153381 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5153381G>A
NC_000012.12:g.5044215G>A
NG_012198.1:g.5297G>A
NM_002234.4:c.68G>A MANE Select NP_002225.2:p.Arg23Gln missense
Protein change
R23Q
Other names
-
Canonical SPDI
NC_000012.12:5044214:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs1197530568
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 Apr 11, 2020 RCV001297689.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Apr 11, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001486717.1
Submitted: (Jan 07, 2021)
Publications:
PubMed (1)
PubMed: 29743074
Comment:
This sequence change replaces arginine with glutamine at codon 23 of the KCNA5 protein (p.Arg23Gln). The arginine residue is weakly conserved and there is a … (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
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients. Yang H Respiratory research 2018 PMID: 29743074

Text-mined citations for rs1197530568...

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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