NM_002234.4(KCNA5):c.1790G>A (p.Arg597Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001584489.3

Allele description [Variation Report for NM_002234.4(KCNA5):c.1790G>A (p.Arg597Gln)]

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

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.1790G>A (p.Arg597Gln)
HGVS:
  • NC_000012.12:g.5045937G>A
  • NG_012198.1:g.7019G>A
  • NM_002234.4:c.1790G>AMANE SELECT
  • NP_002225.2:p.Arg597Gln
  • NC_000012.11:g.5155103G>A
  • NM_002234.2:c.1790G>A
  • NM_002234.3:c.1790G>A
Protein change:
R597Q
Links:
dbSNP: rs201342234
NCBI 1000 Genomes Browser:
rs201342234
Molecular consequence:
  • NM_002234.4:c.1790G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001820749GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 23, 2020)
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, SCV001820749.1

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

Description

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 (ClinVar Variant ID# 537308; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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

Last Updated: Nov 27, 2021

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