NM_000335.5(SCN5A):c.1333C>G (p.His445Asp) AND Atrial fibrillation, familial, 10

Clinical significance:Pathogenic (Last evaluated: Apr 15, 2008)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000022948.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)]

NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)

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.1333C>G (p.His445Asp)
HGVS:
  • NC_000003.12:g.38605956G>C
  • NG_008934.1:g.48717C>G
  • NM_000335.5:c.1333C>GMANE SELECT
  • NM_001099404.2:c.1333C>G
  • NM_001099405.2:c.1333C>G
  • NM_001160160.2:c.1333C>G
  • NM_001160161.2:c.1333C>G
  • NM_001354701.2:c.1333C>G
  • NM_198056.3:c.1333C>G
  • NP_000326.2:p.His445Asp
  • NP_001092874.1:p.His445Asp
  • NP_001092875.1:p.His445Asp
  • NP_001153632.1:p.His445Asp
  • NP_001153633.1:p.His445Asp
  • NP_001341630.1:p.His445Asp
  • NP_932173.1:p.His445Asp
  • NP_932173.1:p.His445Asp
  • LRG_289t1:c.1333C>G
  • LRG_289:g.48717C>G
  • LRG_289p1:p.His445Asp
  • NC_000003.11:g.38647447G>C
  • NM_198056.2:c.1333C>G
  • Q14524:p.His445Asp
Protein change:
H445D; HIS445ASP
Links:
UniProtKB: Q14524#VAR_055173; OMIM: 600163.0042; dbSNP: rs199473112
NCBI 1000 Genomes Browser:
rs199473112
Molecular consequence:
  • NM_000335.5:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atrial fibrillation, familial, 10 (ATFB10)
Identifiers:
MONDO: MONDO:0013530; MedGen: C3151464; OMIM: 614022

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000044239OMIMno assertion criteria providedPathogenic
(Apr 15, 2008)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

Details of each submission

From OMIM, SCV000044239.1

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

Description

In white male proband who was diagnosed with paroxysmal lone atrial fibrillation (ATFB10; 614022) at 39 years of age, Darbar et al. (2008) identified heterozygosity for a G-to-C transversion in the SCN5A gene, resulting in a his445-to-asp (H445D) substitution at a highly conserved residue that was predicted to perturb cardiac sodium channel function. The proband had left atrial enlargement and an ejection fraction of 60% by transthoracic echocardiography. The mutation was also detected in his affected father and brother, but was not found in an unaffected sister or in 720 control alleles.

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

Last Updated: Dec 4, 2021

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