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NM_002234.4(KCNA5):c.860C>T (p.Ala287Val)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000723489.2
Variation ID:
723489
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.860C>T (p.Ala287Val)

Allele ID
738696
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5045007 (GRCh38) GRCh38 UCSC
12: 5154173 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5154173C>T
NC_000012.12:g.5045007C>T
NG_012198.1:g.6089C>T
NM_002234.4:c.860C>T MANE Select NP_002225.2:p.Ala287Val missense
Protein change
A287V
Other names
-
Canonical SPDI
NC_000012.12:5045006:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00018
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
The Genome Aggregation Database (gnomAD) 0.00066
Exome Aggregation Consortium (ExAC) 0.00023
Trans-Omics for Precision Medicine (TOPMed) 0.00054
Trans-Omics for Precision Medicine (TOPMed) 0.00059
The Genome Aggregation Database (gnomAD) 0.00077
Links
dbSNP: rs144246051
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV000897252.2
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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
260 318

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Invitae
Accession: SCV001041388.2
Submitted: (Jan 29, 2020)
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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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 rs144246051...

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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 Nov 27, 2021