NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) AND Andersen Tawil syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 18, 2001
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000009475.4

Allele description [Variation Report for NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)]

NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)

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.899G>T (p.Gly300Val)

Other names:

p.G300V:GGC>GTC

HGVS:

NC_000017.11:g.70175938G>T
NG_008798.1:g.11404G>T
NM_000891.3:c.899G>TMANE SELECT
NP_000882.1:p.Gly300Val
NP_000882.1:p.Gly300Val
LRG_328t1:c.899G>T
LRG_328:g.11404G>T
LRG_328p1:p.Gly300Val
NC_000017.10:g.68172079G>T
NM_000891.2:c.899G>T
P63252:p.Gly300Val

Protein change:

G300V; GLY300VAL

Links:

UniProtKB: P63252#VAR_017857; OMIM: 600681.0003; dbSNP: rs104894579

NCBI 1000 Genomes Browser:

rs104894579

Molecular consequence:

NM_000891.3:c.899G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Andersen Tawil syndrome (LQT7)
Synonyms:: Andersen Syndrome; Andersen cardiodysrhythmic periodic paralysis; Long QT syndrome 7; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008222; MedGen: C1563715; Orphanet: 37553; OMIM: 170390

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029693	OMIM	no assertion criteria provided	Pathogenic (May 18, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029693

OMIM

no assertion criteria provided

Pathogenic
(May 18, 2001)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ.

Cell. 2001 May 18;105(4):511-9.

PubMed [citation]

PMID:: 11371347

Details of each submission

From OMIM, SCV000029693.3

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

Description

In the affected individuals of 2 different pedigrees (K3677 and K3387) with Andersen syndrome (170390), Plaster et al. (2001) identified a heterozygous (dominant) mutation in the KCNJ2 gene. The G-to-T transversion at nucleotide 1127 resulted in a gly300-to-val substitution. This mutation was not found in 100 unaffected and unrelated individuals.

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

Last Updated: Sep 29, 2024

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