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NM_002234.4(KCNA5):c.701G>T (p.Arg234Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 8, 2020
Accession:
VCV000191461.4
Variation ID:
191461
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.701G>T (p.Arg234Leu)

Allele ID
189350
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5044848 (GRCh38) GRCh38 UCSC
12: 5154014 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5154014G>T
NC_000012.12:g.5044848G>T
NG_012198.1:g.5930G>T
NM_002234.4:c.701G>T MANE Select NP_002225.2:p.Arg234Leu missense
Protein change
R234L
Other names
-
Canonical SPDI
NC_000012.12:5044847:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD) 0.00012
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD) 0.00022
Links
ClinGen: CA236717
dbSNP: rs371521698
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 8, 2020 RCV001110302.3
Uncertain significance 1 criteria provided, single submitter Jun 24, 2013 RCV000171653.1
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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 24, 2013)
criteria provided, single submitter
Method: research
Not provided
Affected status: unknown
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000055199.1
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Number of individuals with the variant: 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001267722.1
Submitted: (Feb 20, 2020)
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001504643.1
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces arginine with leucine at codon 234 of the KCNA5 protein (p.Arg234Leu). The arginine 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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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 rs371521698...

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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