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NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000191459.5
Variation ID:
191459
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp)

Allele ID
189348
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5044780 (GRCh38) GRCh38 UCSC
12: 5153946 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5153946G>C
NC_000012.12:g.5044780G>C
NG_012198.1:g.5862G>C
NM_002234.4:c.633G>C MANE Select NP_002225.2:p.Glu211Asp missense
Protein change
E211D
Other names
-
Canonical SPDI
NC_000012.12:5044779:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00083
The Genome Aggregation Database (gnomAD), exomes 0.00088
1000 Genomes Project 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00115
Trans-Omics for Precision Medicine (TOPMed) 0.00119
The Genome Aggregation Database (gnomAD) 0.00134
Links
ClinGen: CA278491
dbSNP: rs35853292
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 24, 2013 RCV000171651.2
Likely benign 1 criteria provided, single submitter Jul 6, 2017 RCV000607514.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 6, 2020 RCV000646140.5
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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
Uncertain significance
(Jun 24, 2013)
criteria provided, single submitter
Method: research
Pulmonary arterial hypertension
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000050687.2
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. HGMD phenotype assertion is uncertain. Pathogenicity categories were based on literature … (more)
Medical sequencing
Evidence details
Likely benign
(Jul 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000728586.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001267721.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (5)
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)
Likely benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Invitae
Accession: SCV000767897.4
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
Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Genetics of pulmonary hypertension. Pasha Q Annals of thoracic medicine 2014 PMID: 25076992
Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease. Fedele F Basic research in cardiology 2013 PMID: 24068186
Interpreting secondary cardiac disease variants in an exome cohort. Ng D Circulation. Cardiovascular genetics 2013 PMID: 23861362
KvSNP: accurately predicting the effect of genetic variants in voltage-gated potassium channels. Stead LF Bioinformatics (Oxford, England) 2011 PMID: 21685056
Tetramerization domain mutations in KCNA5 affect channel kinetics and cause abnormal trafficking patterns. Burg ED American journal of physiology. Cell physiology 2010 PMID: 20018952

Text-mined citations for rs35853292...

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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 Oct 08, 2021