NM_000335.4(SCN5A):c.1540G>T (p.Gly514Cys) AND Cardiac conduction defect, nonspecific

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:: RCV000058427.2

Allele description

NM_000335.4(SCN5A):c.1540G>T (p.Gly514Cys)

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.1540G>T (p.Gly514Cys)

HGVS:

NC_000003.12:g.38604062C>A
NG_008934.1:g.50611G>T
NM_000335.4:c.1540G>T
NM_001099404.1:c.1540G>T
NM_198056.2:c.1540G>T
NP_000326.2:p.Gly514Cys
NP_001092874.1:p.Gly514Cys
NP_932173.1:p.Gly514Cys
LRG_289t1:c.1540G>T
LRG_289t2:c.1540G>T
LRG_289t3:c.1540G>T
LRG_289:g.50611G>T
LRG_289p1:p.Gly514Cys
LRG_289p2:p.Gly514Cys
LRG_289p3:p.Gly514Cys
NC_000003.11:g.38645553C>A
Q14524:p.Gly514Cys

Protein change:

G514C; GLY514CYS

Links:

UniProtKB: Q14524#VAR_017673; OMIM: 600163.0016; dbSNP: rs137854606

NCBI 1000 Genomes Browser:

rs137854606

Molecular consequence:

NM_000335.4:c.1540G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiac conduction defect, nonspecific
Synonyms:: Cardiac conduction disease
Identifiers:: EFO: EFO_0005137; MedGen: C2748542

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000089947	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] 11234013, 19251209

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000089947

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

A sodium-channel mutation causes isolated cardiac conduction disease.

Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen PJ, van den Berg MP, Wilde AA, Balser JR.

Nature. 2001 Feb 22;409(6823):1043-7.

PubMed [citation]

PMID:: 11234013

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

Meregalli PG, Tan HL, Probst V, Koopmann TT, Tanck MW, Bhuiyan ZA, Sacher F, Kyndt F, Schott JJ, Albuisson J, Mabo P, Bezzina CR, Le Marec H, Wilde AA.

Heart Rhythm. 2009 Mar;6(3):341-8. doi: 10.1016/j.hrthm.2008.11.009. Epub 2008 Nov 11.

PubMed [citation]

PMID:: 19251209

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089947.2

#	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: Oct 3, 2016

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