NM_000890.5(KCNJ5):c.659G>T (p.Arg220Leu) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 29, 2024
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:: RCV000619907.4

Allele description [Variation Report for NM_000890.5(KCNJ5):c.659G>T (p.Arg220Leu)]

NM_000890.5(KCNJ5):c.659G>T (p.Arg220Leu)

Gene:

KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.3

Genomic location:

Preferred name:

NM_000890.5(KCNJ5):c.659G>T (p.Arg220Leu)

HGVS:

NC_000011.10:g.128911932G>T
NG_023406.2:g.25515G>T
NM_000890.5:c.659G>TMANE SELECT
NM_001354169.2:c.659G>T
NP_000881.3:p.Arg220Leu
NP_001341098.1:p.Arg220Leu
LRG_333t1:c.659G>T
LRG_333:g.25515G>T
NC_000011.9:g.128781827G>T
NM_000890.3:c.659G>T

Protein change:

R220L

Links:

dbSNP: rs775915273

NCBI 1000 Genomes Browser:

rs775915273

Molecular consequence:

NM_000890.5:c.659G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354169.2:c.659G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000736383	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 29, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000736383

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 29, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000736383.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R220L variant (also known as c.659G>T), located in coding exon 1 of the KCNJ5 gene, results from a G to T substitution at nucleotide position 659. The arginine at codon 220 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 11, 2024

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