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NM_172201.2(KCNE2):c.67A>T (p.Met23Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 2021
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:
RCV002360705.4

Allele description [Variation Report for NM_172201.2(KCNE2):c.67A>T (p.Met23Leu)]

NM_172201.2(KCNE2):c.67A>T (p.Met23Leu)

Genes:
KCNE2:potassium voltage-gated channel subfamily E regulatory subunit 2 [Gene - OMIM - HGNC]
LOC105372791:uncharacterized LOC105372791 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_172201.2(KCNE2):c.67A>T (p.Met23Leu)
HGVS:
  • NC_000021.9:g.34370545A>T
  • NG_008804.1:g.11522A>T
  • NM_172201.2:c.67A>TMANE SELECT
  • NP_751951.1:p.Met23Leu
  • NP_751951.1:p.Met23Leu
  • LRG_291t1:c.67A>T
  • LRG_291:g.11522A>T
  • LRG_291p1:p.Met23Leu
  • NC_000021.8:g.35742844A>T
  • NM_172201.1:c.67A>T
Protein change:
M23L
Links:
dbSNP: rs747045005
NCBI 1000 Genomes Browser:
rs747045005
Molecular consequence:
  • NM_172201.2:c.67A>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
SCV002661835Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 4, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.

Olesen MS, Andreasen L, Jabbari J, Refsgaard L, Haunsø S, Olesen SP, Nielsen JB, Schmitt N, Svendsen JH.

Heart Rhythm. 2014 Feb;11(2):246-51. doi: 10.1016/j.hrthm.2013.10.034. Epub 2013 Oct 18.

PubMed [citation]
PMID:
24144883

Gain-of-function mutations in potassium channel subunit KCNE2 associated with early-onset lone atrial fibrillation.

Nielsen JB, Bentzen BH, Olesen MS, David JP, Olesen SP, Haunsø S, Svendsen JH, Schmitt N.

Biomark Med. 2014;8(4):557-70. doi: 10.2217/bmm.13.137.

PubMed [citation]
PMID:
24796621

Details of each submission

From Ambry Genetics, SCV002661835.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.M23L variant (also known as c.67A>T), located in coding exon 1 of the KCNE2 gene, results from an A to T substitution at nucleotide position 67. The methionine at codon 23 is replaced by leucine, an amino acid with highly similar properties. This variant has been detected in an individual with early onset atrial fibrillation, and in vitro studies suggest this variant may impact ion channel function; however, the physiological relevance of this finding is unclear (Olesen MS et al. Heart Rhythm, 2014 Feb;11:246-51; Nielsen JB et al. Biomark Med, 2014;8:557-70). This amino acid position is well conserved in available vertebrate species; however, leucine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Oct 20, 2024