NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Sep 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000154836.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)]

NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)

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_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)
HGVS:
  • NC_000003.12:g.38554345G>A
  • NG_008934.1:g.100328C>T
  • NM_000335.5:c.4744C>TMANE SELECT
  • NM_001099404.2:c.4747C>T
  • NM_001099405.2:c.4693C>T
  • NM_001160160.2:c.4714+30C>T
  • NM_001160161.2:c.4585C>T
  • NM_001354701.2:c.4690C>T
  • NM_198056.2:c.4747C>T
  • NM_198056.3:c.4747C>T
  • NP_000326.2:p.Arg1582Cys
  • NP_001092874.1:p.Arg1583Cys
  • NP_001092875.1:p.Arg1565Cys
  • NP_001153633.1:p.Arg1529Cys
  • NP_001341630.1:p.Arg1564Cys
  • NP_932173.1:p.Arg1583Cys
  • NP_932173.1:p.Arg1583Cys
  • LRG_289t1:c.4747C>T
  • LRG_289:g.100328C>T
  • LRG_289p1:p.Arg1583Cys
  • NC_000003.11:g.38595836G>A
  • Q14524:p.Arg1583Cys
Protein change:
R1529C
Links:
UniProtKB: Q14524#VAR_074456; dbSNP: rs45514691
NCBI 1000 Genomes Browser:
rs45514691
Molecular consequence:
  • NM_001160160.2:c.4714+30C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000335.5:c.4744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.4747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.4693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.4585C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.4690C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.4747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.4747C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000204518Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Sep 11, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

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

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Walsh R, Peters NS, Cook SA, Ware JS.

J Med Genet. 2014 Jan;51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. Epub 2013 Oct 17.

PubMed [citation]
PMID:
24136861
PMCID:
PMC3888601
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000204518.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Nov 27, 2021

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