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NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) 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:
RCV000058312.3

Allele description [Variation Report for NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)]

NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)

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.431G>A (p.Gly144Asp)
HGVS:
  • NC_000017.11:g.70175470G>A
  • NG_008798.1:g.10936G>A
  • NM_000891.3:c.431G>AMANE SELECT
  • NP_000882.1:p.Gly144Asp
  • NP_000882.1:p.Gly144Asp
  • LRG_328t1:c.431G>A
  • LRG_328:g.10936G>A
  • LRG_328p1:p.Gly144Asp
  • NC_000017.10:g.68171611G>A
  • NM_000891.2:c.431G>A
Protein change:
G144D
Links:
dbSNP: rs199473377
NCBI 1000 Genomes Browser:
rs199473377
Molecular consequence:
  • NM_000891.3:c.431G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000089832Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (2)
[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

Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.

Lim BC, Kim GB, Bae EJ, Noh CI, Hwang H, Kim KJ, Hwang YS, Ko TS, Chae JH.

J Child Neurol. 2010 Apr;25(4):490-3. doi: 10.1177/0883073809357937.

PubMed [citation]
PMID:
20382953

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, SCV000089832.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant has been reported in the following publications (PMID:20382953).

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

Last Updated: Sep 29, 2024