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NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 17, 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:
RCV000250531.6

Allele description [Variation Report for NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)]

NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)

Gene:
KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)
HGVS:
  • NC_000021.9:g.34449388C>T
  • NG_009091.1:g.66928G>A
  • NM_000219.6:c.247G>AMANE SELECT
  • NM_001127668.4:c.247G>A
  • NM_001127669.4:c.247G>A
  • NM_001127670.4:c.247G>A
  • NM_001270402.3:c.247G>A
  • NM_001270403.2:c.247G>A
  • NM_001270404.3:c.247G>A
  • NM_001270405.3:c.247G>A
  • NP_000210.2:p.Glu83Lys
  • NP_001121140.1:p.Glu83Lys
  • NP_001121141.1:p.Glu83Lys
  • NP_001121142.1:p.Glu83Lys
  • NP_001257331.1:p.Glu83Lys
  • NP_001257332.1:p.Glu83Lys
  • NP_001257333.1:p.Glu83Lys
  • NP_001257334.1:p.Glu83Lys
  • LRG_290t1:c.247G>A
  • LRG_290:g.66928G>A
  • NC_000021.8:g.35821686C>T
  • NM_000219.3:c.247G>A
  • NM_001127670.4:c.247G>A
  • P15382:p.Glu83Lys
Protein change:
E83K
Links:
UniProtKB: P15382#VAR_074919; dbSNP: rs199473360
NCBI 1000 Genomes Browser:
rs199473360
Molecular consequence:
  • NM_000219.6:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127668.4:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127669.4:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127670.4:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270402.3:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270403.2:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270404.3:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270405.3:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Effect on ion channel function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0001] - Comment(s)

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000318985Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 17, 2023) 		germlineclinical testing

PubMed (2)
[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

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

Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.

Ghouse J, Have CT, Weeke P, Bille Nielsen J, Ahlberg G, Balslev-Harder M, Appel EV, Skaaby T, Olesen SP, Grarup N, Linneberg A, Pedersen O, Haunsø S, Hastrup Svendsen J, Hansen T, Kanters JK, Salling Olesen M.

Eur Heart J. 2015 Oct 1;36(37):2523-9. doi: 10.1093/eurheartj/ehv297. Epub 2015 Jul 9.

PubMed [citation]
PMID:
26159999

Details of each submission

From Ambry Genetics, SCV000318985.7

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

Description

The p.E83K variant (also known as c.247G>A) is located in coding exon 1 of the KCNE1 gene. This alteration results from a G to A substitution at nucleotide position 247. The glutamic acid at codon 83 is replaced by lysine, an amino acid with similar properties. In a study of long QT syndrome clinical genetic testing, this alteration was reported in one patient; however, clinical details were limited (Kapplinger JD et al. Heart Rhythm, 2009 Sep;6:1297-303). This alteration was also reported in an individual from a healthy exome cohort with a normal QTc interval, but additional clinical information was not available (Ghouse J et al. Eur. Heart J., 2015 Oct;36:2523-9). This amino acid position is not well conserved in available 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: Nov 10, 2024