NM_000335.4(SCN5A):c.414G>A (p.Met138Ile) AND Atrial fibrillation

Clinical significance:Uncertain significance (Last evaluated: Jun 1, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000148866.3

Allele description [Variation Report for NM_000335.4(SCN5A):c.414G>A (p.Met138Ile)]

NM_000335.4(SCN5A):c.414G>A (p.Met138Ile)

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.414G>A (p.Met138Ile)
HGVS:
  • NC_000003.12:g.38622468C>T
  • NG_008934.1:g.32205G>A
  • NM_000335.4:c.414G>A
  • NM_001099404.1:c.414G>A
  • NM_001099405.1:c.414G>A
  • NM_001160160.2:c.414G>A
  • NM_001160161.1:c.414G>A
  • NM_001354701.2:c.414G>A
  • NM_198056.2:c.414G>A
  • NP_000326.2:p.Met138Ile
  • NP_001092874.1:p.Met138Ile
  • NP_001092875.1:p.Met138Ile
  • NP_001153632.1:p.Met138Ile
  • NP_001153633.1:p.Met138Ile
  • NP_001341630.1:p.Met138Ile
  • NP_932173.1:p.Met138Ile
  • LRG_289t1:c.414G>A
  • LRG_289t2:c.414G>A
  • LRG_289t3:c.414G>A
  • LRG_289:g.32205G>A
  • LRG_289p1:p.Met138Ile
  • LRG_289p2:p.Met138Ile
  • LRG_289p3:p.Met138Ile
  • NC_000003.11:g.38663959C>T
  • Q14524:p.Met138Ile
Protein change:
M138I
Links:
UniProtKB: Q14524#VAR_055161; dbSNP: rs199473060
NCBI 1000 Genomes Browser:
rs199473060
Molecular consequence:
  • NM_000335.4:c.414G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.1:c.414G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.1:c.414G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.414G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.1:c.414G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.414G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.414G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atrial fibrillation
Identifiers:
EFO: EFO_0000275; MONDO: MONDO:0004981; MedGen: C0004238; Human Phenotype Ontology: HP:0005110

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090164Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

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

SCV000190610CSER _CC_NCGL, University of Washington - ESP 6500 variant annotationno assertion criteria providedUncertain significance
(Jun 1, 2014)
germlineresearch

Description

Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript

SCV000190610

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch, literature only

Citations

PubMed

Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.

Darbar D, Kannankeril PJ, Donahue BS, Kucera G, Stubblefield T, Haines JL, George AL Jr, Roden DM.

Circulation. 2008 Apr 15;117(15):1927-35. doi: 10.1161/CIRCULATIONAHA.107.757955. Epub 2008 Mar 31.

PubMed [citation]
PMID:
18378609
PMCID:
PMC2365761

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.

Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7.

PubMed [citation]
PMID:
22581653
PMCID:
PMC4640174

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000090164.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant has been reported as associated with Atrial fibrillation in the following publications (PMID:18378609). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190610.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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