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NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 22, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002464254.1

Allele description [Variation Report for NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg)]

NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg)

Gene:
KCNA5:potassium voltage-gated channel subfamily A member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.32
Genomic location:
Preferred name:
NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg)
HGVS:
  • NC_000012.12:g.5045819G>A
  • NG_012198.1:g.6901G>A
  • NM_002234.4:c.1672G>AMANE SELECT
  • NP_002225.2:p.Gly558Arg
  • NC_000012.11:g.5154985G>A
  • NM_002234.2:c.1672G>A
  • NM_002234.3:c.1672G>A
Protein change:
G558R
Links:
dbSNP: rs201328038
NCBI 1000 Genomes Browser:
rs201328038
Molecular consequence:
  • NM_002234.4:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002759141GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Nov 22, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002759141.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in a Scandinavian patient with adult-onset paroxysmal atrial fibrillation (Christophersen et al., 2013); Subcellular localization studies demonstrated no significant differences between G558R and the wildtype (Christophersen et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23264583)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024