NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) AND Atrial fibrillation, familial, 4

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001139401.12

Allele description [Variation Report for NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)]

NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)

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.170T>C (p.Ile57Thr)

Other names:

p.I57T:ATT>ACT

HGVS:

NC_000021.9:g.34370648T>C
NG_008804.1:g.11625T>C
NM_172201.2:c.170T>CMANE SELECT
NP_751951.1:p.Ile57Thr
NP_751951.1:p.Ile57Thr
LRG_291t1:c.170T>C
LRG_291:g.11625T>C
LRG_291p1:p.Ile57Thr
NC_000021.8:g.35742947T>C
NM_172201.1:c.170T>C
Q9Y6J6:p.Ile57Thr

Protein change:

I57T; ILE57THR

Links:

UniProtKB: Q9Y6J6#VAR_008378; OMIM: 603796.0003; dbSNP: rs74315448

NCBI 1000 Genomes Browser:

rs74315448

Molecular consequence:

NM_172201.2:c.170T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Atrial fibrillation, familial, 4 (ATFB4)
Identifiers:: MONDO: MONDO:0012677; MedGen: C1862394; OMIM: 611493

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001299549	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19841298, 10219239, 20042375 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001299549

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

PubMed (3)
[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

Prevalence of the congenital long-QT syndrome.

Schwartz PJ, Stramba-Badiale M, Crotti L, Pedrazzini M, Besana A, Bosi G, Gabbarini F, Goulene K, Insolia R, Mannarino S, Mosca F, Nespoli L, Rimini A, Rosati E, Salice P, Spazzolini C.

Circulation. 2009 Nov 3;120(18):1761-7. doi: 10.1161/CIRCULATIONAHA.109.863209. Epub 2009 Oct 19.

PubMed [citation]

PMID:: 19841298
PMCID:: PMC2784143

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.

Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA.

Cell. 1999 Apr 16;97(2):175-87.

PubMed [citation]

PMID:: 10219239

See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001299549.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Nov 24, 2024

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