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NM_000335.5(SCN5A):c.260A>G (p.Tyr87Cys) AND Brugada syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 7, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000853197.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.260A>G (p.Tyr87Cys)]

NM_000335.5(SCN5A):c.260A>G (p.Tyr87Cys)

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.260A>G (p.Tyr87Cys)
HGVS:
  • NC_000003.12:g.38633048T>C
  • NG_008934.1:g.21625A>G
  • NM_000335.5:c.260A>GMANE SELECT
  • NM_001099404.2:c.260A>G
  • NM_001099405.2:c.260A>G
  • NM_001160160.2:c.260A>G
  • NM_001160161.2:c.260A>G
  • NM_001354701.2:c.260A>G
  • NM_198056.3:c.260A>G
  • NP_000326.2:p.Tyr87Cys
  • NP_001092874.1:p.Tyr87Cys
  • NP_001092875.1:p.Tyr87Cys
  • NP_001153632.1:p.Tyr87Cys
  • NP_001153633.1:p.Tyr87Cys
  • NP_001341630.1:p.Tyr87Cys
  • NP_932173.1:p.Tyr87Cys
  • NP_932173.1:p.Tyr87Cys
  • LRG_289t1:c.260A>G
  • LRG_289:g.21625A>G
  • LRG_289p1:p.Tyr87Cys
  • NC_000003.11:g.38674539T>C
  • NC_000003.11:g.38674539T>C
  • NM_198056.2:c.260A>G
  • p.Y87C
Protein change:
Y87C
Links:
dbSNP: rs1575853007
NCBI 1000 Genomes Browser:
rs1575853007
Molecular consequence:
  • NM_000335.5:c.260A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.260A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.260A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.260A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.260A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.260A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.260A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function
Observations:
1

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000995068Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 7, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations, SCV000995068.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The c.260A>G (p.Y87C) variant is absent from large population studies (ExAC no frequency). Funtional study shows a dominant-negative effect of the mutation on sodium-channels (Zizun Wang et al., 2019). Additionally, computational resources like Provean, PolyPhen2, MutationTaster show deleterious result.

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

Last Updated: Oct 26, 2024