NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000765742.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.152C>T (p.Ala51Val)]

NM_000335.5(SCN5A):c.152C>T (p.Ala51Val)

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.152C>T (p.Ala51Val)
HGVS:
  • NC_000003.12:g.38633156G>A
  • NG_008934.1:g.21517C>T
  • NM_000335.5:c.152C>TMANE SELECT
  • NM_001099404.1:c.152C>T
  • NM_001099405.1:c.152C>T
  • NM_001160160.2:c.152C>T
  • NM_001160161.1:c.152C>T
  • NM_001354701.2:c.152C>T
  • NM_198056.2:c.152C>T
  • NP_000326.2:p.Ala51Val
  • NP_001092874.1:p.Ala51Val
  • NP_001092875.1:p.Ala51Val
  • NP_001153632.1:p.Ala51Val
  • NP_001153633.1:p.Ala51Val
  • NP_001341630.1:p.Ala51Val
  • NP_932173.1:p.Ala51Val
  • LRG_289t1:c.152C>T
  • LRG_289t3:c.152C>T
  • LRG_289:g.21517C>T
  • LRG_289p1:p.Ala51Val
  • LRG_289p3:p.Ala51Val
  • NC_000003.11:g.38674647G>A
Protein change:
A51V
Links:
dbSNP: rs727505131
NCBI 1000 Genomes Browser:
rs727505131
Molecular consequence:
  • NM_000335.5:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.1:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.1:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.1:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brugada syndrome 1 (BRGDA1)
Synonyms:
Right bundle branch block, ST segment elevation, and sudden death syndrome
Identifiers:
MONDO: MONDO:0011001; MedGen: C4551804; Orphanet: 130; OMIM: 601144
Name:
Long QT syndrome 3 (LQT3)
Identifiers:
MONDO: MONDO:0011377; MedGen: C1859062; Orphanet: 101016; Orphanet: 768; OMIM: 603830
Name:
Sick sinus syndrome 1, autosomal recessive (SSS1)
Synonyms:
SICK SINUS SYNDROME, CONGENITAL; SINUS BRADYCARDIA SYNDROME, FAMILIAL; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024562; MedGen: C1837845; Orphanet: 166282; OMIM: 608567
Name:
Progressive familial heart block, type 1A (PFHB1A)
Synonyms:
HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; Heart block progressive familial type 1; Cardiac conduction defect progressive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007240; MedGen: C1879286; Orphanet: 871; OMIM: 113900
Name:
Paroxysmal familial ventricular fibrillation 1 (VF1)
Identifiers:
MONDO: MONDO:0011376; MedGen: C2751898; Orphanet: 228140; OMIM: 603829
Name:
Dilated cardiomyopathy 1E (CMD1E)
Synonyms:
CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA; SCN5A-Associated Dilated Cardiomyopathy
Identifiers:
MONDO: MONDO:0011003; MedGen: C1832680; Orphanet: 154; OMIM: 601154
Name:
SUDDEN INFANT DEATH SYNDROME (SIDS)
Synonyms:
Sudden Infant Death
Identifiers:
EFO: EFO_0005303; MedGen: C0038644; OMIM: 272120
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
SCV000897110Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000897110.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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