NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp) AND Cardiovascular phenotype

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 2022
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:: RCV002348769.3

Allele description

NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp)

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.372A>G (p.Ter124Trp)

Other names:

*124W

HGVS:

NC_000021.9:g.34370850A>G
NG_008804.1:g.11827A>G
NM_172201.2:c.372A>GMANE SELECT
NP_751951.1:p.Ter124Trp
LRG_291t1:c.372A>G
LRG_291:g.11827A>G
NC_000021.8:g.35743149A>G
NM_172201.1:c.372A>G

Links:

dbSNP: rs1305783893

NCBI 1000 Genomes Browser:

rs1305783893

Molecular consequence:

NM_172201.2:c.372A>G - stop lost - [Sequence Ontology: SO:0001578]

Observations:

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
SCV002620736	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Mar 15, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002620736

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Mar 15, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002620736.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

The c.372A>G variant (also known as p.*124Wext*1), located in coding exon 1 of the KCNE2 gene, results from an A to G substitution at nucleotide position 372. This alteration disrupts the stop codon of the KCNE2 gene and is predicted to preserve the native sequence while resulting in the elongation of the protein by one amino acid. The exact functional effect of the additional amino acid is unknown, and the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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

Last Updated: Feb 28, 2024

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