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NM_002234.4(KCNA5):c.1497G>A (p.Leu499=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000469584.5
Variation ID:
469584
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.1497G>A (p.Leu499=)

Allele ID
462292
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5045644 (GRCh38) GRCh38 UCSC
12: 5154810 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5154810G>A
NC_000012.12:g.5045644G>A
NM_002234.4:c.1497G>A MANE Select NP_002225.2:p.Leu499= synonymous
NG_012198.1:g.6726G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:5045643:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00599 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00457
The Genome Aggregation Database (gnomAD) 0.00424
1000 Genomes Project 0.00599
Exome Aggregation Consortium (ExAC) 0.00140
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00438
The Genome Aggregation Database (gnomAD), exomes 0.00111
Links
ClinGen: CA6399881
dbSNP: rs17221805
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 25, 2020 RCV000535336.6
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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
254 312

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 07, 2017)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001270764.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Invitae
Accession: SCV000646978.5
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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Title Author Journal Year Link
Polymorphism screening in the cardiac K+ channel gene KCNA5. Simard C Clinical pharmacology and therapeutics 2005 PMID: 15735608

Text-mined citations for rs17221805...

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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 Jun 14, 2021