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NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jan 29, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001531539.21

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)
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001746730CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Mar 1, 2021) 		germlineclinical testing

Citation Link,

SCV005078962GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 29, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001746730.20

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV005078962.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24710009, 19716085, 26159999, 26410412, 34426522)

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

Last Updated: Nov 10, 2024