NM_000891.3(KCNJ2):c.904G>A (p.Val302Met) AND Andersen Tawil syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2002
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:: RCV000009480.3

Allele description [Variation Report for NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)]

NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)

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.904G>A (p.Val302Met)

HGVS:

NC_000017.11:g.70175943G>A
NG_008798.1:g.11409G>A
NM_000891.3:c.904G>AMANE SELECT
NP_000882.1:p.Val302Met
NP_000882.1:p.Val302Met
LRG_328t1:c.904G>A
LRG_328:g.11409G>A
LRG_328p1:p.Val302Met
NC_000017.10:g.68172084G>A
NM_000891.2:c.904G>A
P63252:p.Val302Met

Protein change:

V302M; VAL302MET

Links:

UniProtKB: P63252#VAR_017858; OMIM: 600681.0008; dbSNP: rs104894582

NCBI 1000 Genomes Browser:

rs104894582

Molecular consequence:

NM_000891.3:c.904G>A - 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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Achromobacter sp. P-01 16S ribosomal RNA gene, partial sequence
Achromobacter sp. P-01 16S ribosomal RNA gene, partial sequence
gi|313669842|gb|HQ456248.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029698	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2002)	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

SCV000029698

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2002)

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

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R.

J Clin Invest. 2002 Aug;110(3):381-8.

PubMed [citation]

PMID:: 12163457
PMCID:: PMC151085

Details of each submission

From OMIM, SCV000029698.2

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

Description

In a kindred with Andersen syndrome (170390), Tristani-Firouzi et al. (2002) found a G-to-A transition at nucleotide 1132 of the KCNJ2 gene, resulting in a val302-to-met (V302M) amino acid change. This mutation lies in a C-terminal region that may be responsible for channel subunit assembly.

#	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: May 7, 2024

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