U.S. flag

An official website of the United States government

NM_000891.3(KCNJ2):c.974G>A (p.Arg325His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 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:
RCV002383953.2

Allele description [Variation Report for NM_000891.3(KCNJ2):c.974G>A (p.Arg325His)]

NM_000891.3(KCNJ2):c.974G>A (p.Arg325His)

Gene:
KCNJ2:potassium inwardly rectifying channel subfamily J member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.3
Genomic location:
Preferred name:
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His)
HGVS:
  • NC_000017.11:g.70176013G>A
  • NG_008798.1:g.11479G>A
  • NM_000891.3:c.974G>AMANE SELECT
  • NP_000882.1:p.Arg325His
  • NP_000882.1:p.Arg325His
  • LRG_328t1:c.974G>A
  • LRG_328:g.11479G>A
  • LRG_328p1:p.Arg325His
  • NC_000017.10:g.68172154G>A
  • NM_000891.2:c.974G>A
Protein change:
R325H
Links:
dbSNP: rs1555604000
NCBI 1000 Genomes Browser:
rs1555604000
Molecular consequence:
  • NM_000891.3:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002693426Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 19, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

Chang RK, Lan YT, Silka MJ, Morrow H, Kwong A, Smith-Lang J, Wallerstein R, Lin HJ.

J Pediatr. 2014 Mar;164(3):590-5.e1-3. doi: 10.1016/j.jpeds.2013.11.011. Epub 2013 Dec 31.

PubMed [citation]
PMID:
24388587
PMCID:
PMC3943925

Details of each submission

From Ambry Genetics, SCV002693426.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.R325H variant (also known as c.974G>A), located in coding exon 1 of the KCNJ2 gene, results from a G to A substitution at nucleotide position 974. The arginine at codon 325 is replaced by histidine, an amino acid with highly similar properties. This variant was detected as heterozygous in one individual from a sensorineural hearing loss cohort who had a borderline QTc interval and an additional SCN5A variant also detected (Chang RK et al. J. Pediatr., 2014 Mar;164:590-5.e1-3). 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025