NM_000238.3(KCNH2):c.1764C>G (p.Asn588Lys) AND short 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:: RCV000057981.2

Allele description

NM_000238.3(KCNH2):c.1764C>G (p.Asn588Lys)

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.1764C>G (p.Asn588Lys)

HGVS:

NC_000007.14:g.150951629G>C
NG_008916.1:g.31298C>G
NM_000238.3:c.1764C>G
NM_172056.2:c.1764C>G
NM_172057.2:c.744C>G
NP_000229.1:p.Asn588Lys
NP_742053.1:p.Asn588Lys
NP_742054.1:p.Asn248Lys
LRG_288t1:c.1764C>G
LRG_288t2:c.1764C>G
LRG_288t3:c.744C>G
LRG_288:g.31298C>G
LRG_288p1:p.Asn588Lys
LRG_288p2:p.Asn588Lys
LRG_288p3:p.Asn248Lys
NC_000007.13:g.150648717G>C

Protein change:

N248K; ASN588LYS

Links:

OMIM: 152427.0017; dbSNP: rs104894021

NCBI 1000 Genomes Browser:

rs104894021

Molecular consequence:

NM_000238.3:c.1764C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: short QT syndrome (SQT)
Synonyms:: Familial short QT syndrome
Identifiers:: MedGen: C2348199; Orphanet: 51083

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000089501	Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (6) [See all records that cite these PMIDs] 14676148, 15828882, 19088443, 19439805, 19501051, 22194679

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000089501

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

no assertion criteria provided

Pathogenic

germline

literature only

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
	germline	yes	5	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Sudden death associated with short-QT syndrome linked to mutations in HERG.

Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM, Brugada J, Pollevick GD, Wolpert C, Burashnikov E, Matsuo K, Wu YS, Guerchicoff A, Bianchi F, Giustetto C, Schimpf R, Brugada P, Antzelevitch C.

Circulation. 2004 Jan 6;109(1):30-5. Epub 2003 Dec 15.

PubMed [citation]

PMID:: 14676148

Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

Hong K, Bjerregaard P, Gussak I, Brugada R.

J Cardiovasc Electrophysiol. 2005 Apr;16(4):394-6.

PubMed [citation]

PMID:: 15828882

See all PubMed Citations (6)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089501.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		5	not provided	not provided	literature only	PubMed (6)

#	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		5	not provided	not provided	not provided

Last Updated: Sep 28, 2016

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