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NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) AND Atrial fibrillation

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000058377.5

Allele description [Variation Report for NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)]

NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)

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.79C>T (p.Arg27Cys)
HGVS:
  • NC_000021.9:g.34370557C>T
  • NG_008804.1:g.11534C>T
  • NM_172201.2:c.79C>TMANE SELECT
  • NP_751951.1:p.Arg27Cys
  • NP_751951.1:p.Arg27Cys
  • LRG_291t1:c.79C>T
  • LRG_291:g.11534C>T
  • LRG_291p1:p.Arg27Cys
  • NC_000021.8:g.35742856C>T
  • NM_172201.1:c.79C>T
  • Q9Y6J6:p.Arg27Cys
Protein change:
R27C; ARG27CYS
Links:
UniProtKB: Q9Y6J6#VAR_037795; OMIM: 603796.0004; dbSNP: rs74315449
NCBI 1000 Genomes Browser:
rs74315449
Molecular consequence:
  • NM_172201.2:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atrial fibrillation
Identifiers:
EFO: EFO_0000275; MONDO: MONDO:0004981; MedGen: C0004238; Human Phenotype Ontology: HP:0005110

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000089897Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.

Yang Y, Xia M, Jin Q, Bendahhou S, Shi J, Chen Y, Liang B, Lin J, Liu Y, Liu B, Zhou Q, Zhang D, Wang R, Ma N, Su X, Niu K, Pei Y, Xu W, Chen Z, Wan H, Cui J, Barhanin J, et al.

Am J Hum Genet. 2004 Nov;75(5):899-905. Epub 2004 Sep 13.

PubMed [citation]
PMID:
15368194
PMCID:
PMC1182120

Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.

Koo SH, Ho WF, Lee EJ.

Br J Clin Pharmacol. 2006 Mar;61(3):301-8.

PubMed [citation]
PMID:
16487223
PMCID:
PMC1885019
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089897.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

This variant has been reported as associated with Atrial fibrillation in the following publications (PMID:15368194;PMID:16487223). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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

Last Updated: Sep 29, 2024