U.S. flag

An official website of the United States government

NM_000890.5(KCNJ5):c.674G>A (p.Arg225His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 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:
RCV002370145.1

Allele description [Variation Report for NM_000890.5(KCNJ5):c.674G>A (p.Arg225His)]

NM_000890.5(KCNJ5):c.674G>A (p.Arg225His)

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.674G>A (p.Arg225His)
HGVS:
  • NC_000011.10:g.128911947G>A
  • NG_023406.2:g.25530G>A
  • NM_000890.5:c.674G>AMANE SELECT
  • NM_001354169.2:c.674G>A
  • NP_000881.3:p.Arg225His
  • NP_001341098.1:p.Arg225His
  • LRG_333t1:c.674G>A
  • LRG_333:g.25530G>A
  • NC_000011.9:g.128781842G>A
  • NM_000890.3:c.674G>A
Protein change:
R225H
Links:
dbSNP: rs772877248
NCBI 1000 Genomes Browser:
rs772877248
Molecular consequence:
  • NM_000890.5:c.674G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354169.2:c.674G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002667863Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Apr 11, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002667863.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R225H variant (also known as c.674G>A), located in coding exon 1 of the KCNJ5 gene, results from a G to A substitution at nucleotide position 674. The arginine at codon 225 is replaced by histidine, an amino acid with highly similar 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 7, 2023