U.S. flag

An official website of the United States government

NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) AND Brugada syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
criteria provided, conflicting classifications
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:
RCV000227443.28

Allele description [Variation Report for NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)]

NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)

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.1569T>A (p.Arg523=)
HGVS:
  • NC_000003.12:g.38604033A>T
  • NG_008934.1:g.50640T>A
  • NM_000335.5:c.1569T>AMANE SELECT
  • NM_001099404.2:c.1569T>A
  • NM_001099405.2:c.1569T>A
  • NM_001160160.2:c.1569T>A
  • NM_001160161.2:c.1569T>A
  • NM_001354701.2:c.1569T>A
  • NM_198056.3:c.1569T>A
  • NP_000326.2:p.Arg523=
  • NP_001092874.1:p.Arg523=
  • NP_001092875.1:p.Arg523=
  • NP_001153632.1:p.Arg523=
  • NP_001153633.1:p.Arg523=
  • NP_001341630.1:p.Arg523=
  • NP_932173.1:p.Arg523=
  • NP_932173.1:p.Arg523=
  • LRG_289t1:c.1569T>A
  • LRG_289:g.50640T>A
  • LRG_289p1:p.Arg523=
  • NC_000003.11:g.38645524A>T
  • NM_198056.2:c.1569T>A
  • p.Arg523Arg
Links:
dbSNP: rs41313693
NCBI 1000 Genomes Browser:
rs41313693
Molecular consequence:
  • NM_000335.5:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001099404.2:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001099405.2:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001160160.2:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001160161.2:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354701.2:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198056.3:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Brugada syndrome
Synonyms:
Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000444151Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000444151.2

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

Last Updated: Oct 8, 2024