NM_000335.4(SCN5A):c.26G>T (p.Gly9Val) 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:: RCV000058520.2

Allele description

NM_000335.4(SCN5A):c.26G>T (p.Gly9Val)

Gene:

SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000335.4(SCN5A):c.26G>T (p.Gly9Val)

HGVS:

NC_000003.12:g.38633282C>A
NG_008934.1:g.21391G>T
NM_000335.4:c.26G>T
NM_001099404.1:c.26G>T
NM_198056.2:c.26G>T
NP_000326.2:p.Gly9Val
NP_001092874.1:p.Gly9Val
NP_932173.1:p.Gly9Val
LRG_289t1:c.26G>T
LRG_289t2:c.26G>T
LRG_289t3:c.26G>T
LRG_289:g.21391G>T
LRG_289p1:p.Gly9Val
LRG_289p2:p.Gly9Val
LRG_289p3:p.Gly9Val
NC_000003.11:g.38674773C>A
Q14524:p.Gly9Val

Protein change:

G9V

Links:

UniProtKB: Q14524#VAR_036660; dbSNP: rs199473043

NCBI 1000 Genomes Browser:

rs199473043

Molecular consequence:

NM_198056.2:c.26G>T - 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
SCV000090040	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

SCV000090040

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 of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzàlez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.

Clin Genet. 2006 Sep;70(3):214-27.

PubMed [citation]

PMID:: 16922724

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000090040.2

#	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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