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NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) AND KCNE2-Related Disorders

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 2018
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:
RCV000778640.6

Allele description [Variation Report for NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)]

NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)

Genes:
KCNE2:potassium voltage-gated channel subfamily E regulatory subunit 2 [Gene - OMIM - HGNC]
LOC105372791:uncharacterized LOC105372791 [Gene]
Variant type:
Deletion
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)
Other names:
p.*124IextX14
HGVS:
  • NC_000021.9:g.34370847_34370848del
  • NG_008804.1:g.11824_11825del
  • NM_172201.2:c.369_370delMANE SELECT
  • NP_751951.1:p.Ter124IleextTer?
  • NP_751951.1:p.Ter124IleextTer?
  • LRG_291t1:c.369_370del
  • LRG_291:g.11824_11825del
  • LRG_291p1:p.Ter124IleextTer?
  • NC_000021.8:g.35743146_35743147del
  • NM_172201.1:c.369_370del
  • NM_172201.1:c.369_370delCT
Links:
dbSNP: rs45610936
NCBI 1000 Genomes Browser:
rs45610936
Molecular consequence:
  • NM_172201.2:c.369_370del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
KCNE2-Related Disorders
Identifiers:
MedGen: CN239320

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000914967Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(Oct 26, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]
PMID:
19716085
PMCID:
PMC3049907

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000914967.1

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

Description

The KCNE2 c.369_370delCT (p.Ter124Ile) variant is a stop-loss variant that is predicted to result in an elongation of the protein. The p.Ter124Ile variant has been reported in a single study and found in one individual referred for long QT syndrome genetic testing (Kapplinger et al. 2009). Four other genes, including the three major contributors to long QT syndrome, were also screened for variants in this patient. The variant was absent from over 1300 healthy control individuals and is reported at a frequency of 0.000203 in the Latino population of the Genome Aggregation Database. The p.Ter124Ile variant has not been reported in the literature in association with familial atrial fibrillation. Based on the evidence and the potential impact of stop-lost variants, the p.Ter124Ile variant is classified as a variant of unknown significance but suspicious for pathogenicity for KCNE2-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024