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NM_002234.4(KCNA5):c.1354G>C (p.Val452Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Jun 25, 2018
Accession:
VCV000574366.1
Variation ID:
574366
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.1354G>C (p.Val452Leu)

Allele ID
566872
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5045501 (GRCh38) GRCh38 UCSC
12: 5154667 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5154667G>C
NC_000012.12:g.5045501G>C
NG_012198.1:g.6583G>C
NM_002234.4:c.1354G>C MANE Select NP_002225.2:p.Val452Leu missense
Protein change
V452L
Other names
-
Canonical SPDI
NC_000012.12:5045500:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1486417435
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 Jun 25, 2018 RCV000696286.1
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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
(Jun 25, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000824838.1
Submitted: (Aug 29, 2018)
Publications:
PubMed (1)
PubMed: 28492532
Comment:
This sequence change replaces valine with leucine at codon 452 of the KCNA5 protein (p.Val452Leu). The valine residue is highly 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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs1486417435...

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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