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NM_002234.4(KCNA5):c.1790G>A (p.Arg597Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 1, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000537308.7
Variation ID:
537308
Description:
single nucleotide variant
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NM_002234.4(KCNA5):c.1790G>A (p.Arg597Gln)

Allele ID
527217
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.32
Genomic location
12: 5045937 (GRCh38) GRCh38 UCSC
12: 5155103 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.5155103G>A
NC_000012.12:g.5045937G>A
NG_012198.1:g.7019G>A
NM_002234.4:c.1790G>A MANE Select NP_002225.2:p.Arg597Gln missense
Protein change
R597Q
Other names
-
Canonical SPDI
NC_000012.12:5045936:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00035
The Genome Aggregation Database (gnomAD) 0.00048
Exome Aggregation Consortium (ExAC) 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Links
ClinGen: CA6399950
dbSNP: rs201342234
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 3, 2020 RCV000646128.4
Uncertain significance 1 criteria provided, single submitter Jan 23, 2020 RCV001584489.3
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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 03, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 7
Allele origin: germline
Invitae
Accession: SCV000767885.4
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 23, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001820749.1
Submitted: (Sep 01, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Reported as a variant of uncertain significance by another clinical laboratory in ClinVar … (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 rs201342234...

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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 06, 2021