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NM_000335.4(SCN5A):c.2314G>A (p.Asp772Asn) AND Congenital long QT syndrome

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:
RCV000058495.2

Allele description

NM_000335.4(SCN5A):c.2314G>A (p.Asp772Asn)

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.2314G>A (p.Asp772Asn)
HGVS:
  • NC_000003.12:g.38587522C>T
  • NG_008934.1:g.67151G>A
  • NM_000335.4:c.2314G>A
  • NM_001099404.1:c.2314G>A
  • NM_001160161.1:c.2314G>A
  • NM_198056.2:c.2314G>A
  • NP_000326.2:p.Asp772Asn
  • NP_001092874.1:p.Asp772Asn
  • NP_001153633.1:p.Asp772Asn
  • NP_932173.1:p.Asp772Asn
  • LRG_289t1:c.2314G>A
  • LRG_289t2:c.2314G>A
  • LRG_289t3:c.2314G>A
  • LRG_289:g.67151G>A
  • LRG_289p1:p.Asp772Asn
  • LRG_289p2:p.Asp772Asn
  • LRG_289p3:p.Asp772Asn
  • NC_000003.11:g.38629013C>T
  • Q14524:p.Asp772Asn
  • c.2314G>A
Protein change:
D772N
Links:
UniProtKB: Q14524#VAR_074382; dbSNP: rs199473157
NCBI 1000 Genomes Browser:
rs199473157
Molecular consequence:
  • NM_000335.4:c.2314G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090015Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust
no assertion criteria provided
Pathogenicgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
germlineyes1not providednot providednot providednot providedliterature 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

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, et al.

Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.

PubMed [citation]
PMID:
20129283
PMCID:
PMC2822446

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000090015.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 23, 2016