NM_000238.3(KCNH2):c.1888G>C (p.Val630Leu) 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:: RCV000058037.2

Allele description

NM_000238.3(KCNH2):c.1888G>C (p.Val630Leu)

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.1888G>C (p.Val630Leu)

HGVS:

NC_000007.14:g.150951505C>G
NG_008916.1:g.31422G>C
NM_000238.3:c.1888G>C
NM_172056.2:c.1888G>C
NM_172057.2:c.868G>C
NP_000229.1:p.Val630Leu
NP_742053.1:p.Val630Leu
NP_742054.1:p.Val290Leu
LRG_288t1:c.1888G>C
LRG_288t2:c.1888G>C
LRG_288t3:c.868G>C
LRG_288:g.31422G>C
LRG_288p1:p.Val630Leu
LRG_288p2:p.Val630Leu
LRG_288p3:p.Val290Leu
NC_000007.13:g.150648593C>G
Q12809:p.Val630Leu

Protein change:

V290L

Links:

UniProtKB: Q12809#VAR_008934; dbSNP: rs199472958

NCBI 1000 Genomes Browser:

rs199472958

Molecular consequence:

NM_000238.3:c.1888G>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
SCV000089557	Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9024139, 16432067

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000089557

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

no assertion criteria provided

Pathogenic

germline

literature only

PubMed (2)
[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	2	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

Tanaka T, Nagai R, Tomoike H, Takata S, Yano K, Yabuta K, Haneda N, Nakano O, Shibata A, Sawayama T, Kasai H, Yazaki Y, Nakamura Y.

Circulation. 1997 Feb 4;95(3):565-7.

PubMed [citation]

PMID:: 9024139

Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.

Anderson CL, Delisle BP, Anson BD, Kilby JA, Will ML, Tester DJ, Gong Q, Zhou Z, Ackerman MJ, January CT.

Circulation. 2006 Jan 24;113(3):365-73.

PubMed [citation]

PMID:: 16432067

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089557.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		2	not provided	not provided	literature only	PubMed (2)

#	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		2	not provided	not provided	not provided

Last Updated: Sep 23, 2016

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