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NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000191570.11
Variation ID:
191570
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr)

Allele ID
189351
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5044898 (GRCh38) GRCh38 UCSC
12: 5154064 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5154064G>A
NC_000012.12:g.5044898G>A
NG_012198.1:g.5980G>A
NM_002234.4:c.751G>A MANE Select NP_002225.2:p.Ala251Thr missense
Protein change
A251T
Other names
-
Canonical SPDI
NC_000012.12:5044897:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00819 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01011
1000 Genomes Project 0.00819
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00946
Exome Aggregation Consortium (ExAC) 0.01310
The Genome Aggregation Database (gnomAD), exomes 0.01444
The Genome Aggregation Database (gnomAD) 0.01239
Links
ClinGen: CA199945
dbSNP: rs12720442
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Mar 28, 2016 RCV000171806.3
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Dec 8, 2020 RCV000558412.6
Likely benign 2 criteria provided, single submitter Sep 21, 2020 RCV001572727.4
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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
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000379698.3
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
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Invitae
Accession: SCV000646997.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jun 24, 2013)
criteria provided, single submitter
Method: research
not specified
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000050820.1
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
Evidence details
Benign
(Mar 28, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000539415.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Benign
(Jul 06, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001159396.2
Submitted: (Dec 11, 2020)
Evidence details
Likely benign
(Sep 21, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001812026.1
Submitted: (Aug 31, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001797530.1
Submitted: (Aug 19, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001926066.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001953885.1
Submitted: (Sep 30, 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
A pilot study to estimate the feasibility of assessing the relationships between polymorphisms in hKv1.5 and atrial fibrillation in patients following coronary artery bypass graft surgery. Plante I The Canadian journal of cardiology 2008 PMID: 18209767

Text-mined citations for rs12720442...

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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 02, 2021