NM_000238.3(KCNH2):c.2771G>C (p.Gly924Ala) AND Congenital long QT syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
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:: RCV000058164.2

Allele description

NM_000238.3(KCNH2):c.2771G>C (p.Gly924Ala)

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000238.3(KCNH2):c.2771G>C (p.Gly924Ala)

HGVS:

NC_000007.14:g.150947800C>G
NG_008916.1:g.35127G>C
NM_000238.3:c.2771G>C
NM_172057.2:c.1751G>C
NP_000229.1:p.Gly924Ala
NP_742054.1:p.Gly584Ala
LRG_288t1:c.2771G>C
LRG_288t3:c.1751G>C
LRG_288:g.35127G>C
LRG_288p1:p.Gly924Ala
LRG_288p3:p.Gly584Ala
NC_000007.13:g.150644888C>G
Q12809:p.Gly924Ala

Protein change:

G584A

Links:

UniProtKB: Q12809#VAR_074894; dbSNP: rs199473009

NCBI 1000 Genomes Browser:

rs199473009

Molecular consequence:

NM_000238.3:c.2771G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital long QT syndrome
Synonyms:: Familial long QT syndrome
Identifiers:: MedGen: C1141890; Orphanet: 768

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000089684	Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust	no assertion criteria provided	Pathogenic	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

SCV000089684

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

no assertion criteria provided

Pathogenic

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
	germline	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]

PMID:: 19716085
PMCID:: PMC3049907

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089684.2

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

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

Last Updated: Sep 23, 2016

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