NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 31, 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:: RCV002433561.4

Allele description [Variation Report for NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly)]

NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly)

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.281A>G (p.Glu94Gly)

HGVS:

NC_000021.9:g.34370759A>G
NG_008804.1:g.11736A>G
NM_172201.2:c.281A>GMANE SELECT
NP_751951.1:p.Glu94Gly
NP_751951.1:p.Glu94Gly
LRG_291t1:c.281A>G
LRG_291:g.11736A>G
LRG_291p1:p.Glu94Gly
NC_000021.8:g.35743058A>G
NM_172201.1:c.281A>G
Q9Y6J6:p.Glu94Gly

Protein change:

E94G

Links:

UniProtKB: Q9Y6J6#VAR_074926; dbSNP: rs74424227

NCBI 1000 Genomes Browser:

rs74424227

Molecular consequence:

NM_172201.2:c.281A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002747670	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Oct 31, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19716085, 28794082 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002747670

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Oct 31, 2023)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

Roberts JD, Krahn AD, Ackerman MJ, Rohatgi RK, Moss AJ, Nazer B, Tadros R, Gerull B, Sanatani S, Wijeyeratne YD, Baruteau AE, Muir AR, Pang B, Cadrin-Tourigny J, Talajic M, Rivard L, Tester DJ, Liu T, Whitman IR, Wojciak J, Conacher S, Gula LJ, et al.

Circ Arrhythm Electrophysiol. 2017 Aug;10(8). doi:pii: e005282. 10.1161/CIRCEP.117.005282.

PubMed [citation]

PMID:: 28794082

Details of each submission

From Ambry Genetics, SCV002747670.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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