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NM_000891.3(KCNJ2):c.494C>T (p.Ser165Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 2023
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:
RCV003165075.2

Allele description [Variation Report for NM_000891.3(KCNJ2):c.494C>T (p.Ser165Leu)]

NM_000891.3(KCNJ2):c.494C>T (p.Ser165Leu)

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.494C>T (p.Ser165Leu)
HGVS:
  • NC_000017.11:g.70175533C>T
  • NG_008798.1:g.10999C>T
  • NM_000891.3:c.494C>TMANE SELECT
  • NP_000882.1:p.Ser165Leu
  • NP_000882.1:p.Ser165Leu
  • LRG_328t1:c.494C>T
  • LRG_328:g.10999C>T
  • LRG_328p1:p.Ser165Leu
  • NC_000017.10:g.68171674C>T
  • NM_000891.2:c.494C>T
Protein change:
S165L
Molecular consequence:
  • NM_000891.3:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003854990Ambry Genetics
criteria provided, single submitter

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

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Residues beyond the selectivity filter of the K+ channel kir2.1 regulate permeation and block by external Rb+ and Cs+.

Thompson GA, Leyland ML, Ashmole I, Sutcliffe MJ, Stanfield PR.

J Physiol. 2000 Jul 15;526 Pt 2:231-40.

PubMed [citation]
PMID:
10896714
PMCID:
PMC2270013

Ser165 in the second transmembrane region of the Kir2.1 channel determines its susceptibility to blockade by intracellular Mg2+.

Fujiwara Y, Kubo Y.

J Gen Physiol. 2002 Nov;120(5):677-93.

PubMed [citation]
PMID:
12407079
PMCID:
PMC2229556
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV003854990.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The p.S165L variant (also known as c.494C>T), located in coding exon 1 of the KCNJ2 gene, results from a C to T substitution at nucleotide position 494. The serine at codon 165 is replaced by leucine, an amino acid with dissimilar properties. In vitro studies suggest this variant may have some impact on channel function (Thompson GA et al. J Physiol, 2000 Jul;526 Pt 2:231-4; Fujiwara Y et al. J Gen Physiol, 2002 Nov;120:677-93; Lee YM et al. Korean J Physiol Pharmacol, 2009 Feb;13:61-70; Huang CW et al. Pflugers Arch, 2014 Feb;466:275-93). 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: May 1, 2024