NM_000891.3(KCNJ2):c.437G>C (p.Gly146Ala) AND Congenital long QT syndrome

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:: RCV000058316.3

Allele description [Variation Report for NM_000891.3(KCNJ2):c.437G>C (p.Gly146Ala)]

NM_000891.3(KCNJ2):c.437G>C (p.Gly146Ala)

Gene:

KCNJ2:potassium inwardly rectifying channel subfamily J member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.3

Genomic location:

Preferred name:

NM_000891.3(KCNJ2):c.437G>C (p.Gly146Ala)

HGVS:

NC_000017.11:g.70175476G>C
NG_008798.1:g.10942G>C
NM_000891.3:c.437G>CMANE SELECT
NP_000882.1:p.Gly146Ala
NP_000882.1:p.Gly146Ala
LRG_328t1:c.437G>C
LRG_328:g.10942G>C
LRG_328p1:p.Gly146Ala
NC_000017.10:g.68171617G>C
NM_000891.2:c.437G>C

Protein change:

G146A

Links:

dbSNP: rs199473379

NCBI 1000 Genomes Browser:

rs199473379

Molecular consequence:

NM_000891.3:c.437G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital long QT syndrome (RWS)
Synonyms:: Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:: MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000089836	Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 19931173, 22581653

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000089836

Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust

no classification provided

not provided

germline

literature only

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

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	literature only

Citations

PubMed

Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome.

Kim JB, Chung KW.

Pediatr Neurol. 2009 Dec;41(6):464-6. doi: 10.1016/j.pediatrneurol.2009.07.010.

PubMed [citation]

PMID:: 19931173

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.

Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7.

PubMed [citation]

PMID:: 22581653
PMCID:: PMC4640174

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089836.3

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

Description

This variant has been reported in the following publications (PMID:19931173).

#	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: Oct 29, 2022

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