U.S. flag

An official website of the United States government

NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs) AND SCN5A-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 18, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004539709.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs)]

NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs)

Genes:
LOC110121269:VISTA enhancer hs2177 [Gene]
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs)
HGVS:
  • NC_000003.12:g.38581006_38581017delinsACACAGTCAGA
  • NG_008934.1:g.73656_73667delinsTCTGACTGTGT
  • NG_053884.1:g.2745_2756delinsACACAGTCAGA
  • NM_000335.5:c.3142_3153delinsTCTGACTGTGTMANE SELECT
  • NM_001099404.2:c.3142_3153delinsTCTGACTGTGT
  • NM_001099405.2:c.3142_3153delinsTCTGACTGTGT
  • NM_001160160.2:c.3142_3153delinsTCTGACTGTGT
  • NM_001160161.2:c.3142_3153delinsTCTGACTGTGT
  • NM_001354701.2:c.3142_3153delinsTCTGACTGTGT
  • NM_198056.3:c.3142_3153delinsTCTGACTGTGT
  • NP_000326.2:p.Pro1048fs
  • NP_001092874.1:p.Pro1048fs
  • NP_001092875.1:p.Pro1048fs
  • NP_001153632.1:p.Pro1048fs
  • NP_001153633.1:p.Pro1048fs
  • NP_001341630.1:p.Pro1048fs
  • NP_932173.1:p.Pro1048fs
  • LRG_289:g.73656_73667delinsTCTGACTGTGT
  • NC_000003.11:g.38622497_38622508delinsACACAGTCAGA
  • NM_001099404.1:c.3142_3153delinsTCTGACTGTGT
  • NM_198056.2:c.3142_3153del12insTCTGACTGTGT
  • NM_198056.2:c.3142_3153delCCCATCGCTGTGinsTCTGACTGTGT
  • p.P1048SfsX97
Protein change:
P1048fs
Links:
dbSNP: rs794728917
NCBI 1000 Genomes Browser:
rs794728917
Molecular consequence:
  • NM_000335.5:c.3142_3153delinsTCTGACTGTGT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001099404.2:c.3142_3153delinsTCTGACTGTGT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001099405.2:c.3142_3153delinsTCTGACTGTGT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001160160.2:c.3142_3153delinsTCTGACTGTGT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001160161.2:c.3142_3153delinsTCTGACTGTGT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354701.2:c.3142_3153delinsTCTGACTGTGT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198056.3:c.3142_3153delinsTCTGACTGTGT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
SCN5A-related disorder
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004790150PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Nov 18, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004790150.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The SCN5A c.3142_3153delinsTCTGACTGTGT variant is predicted to result in a frameshift and premature protein termination (p.Pro1048Serfs*97). This variant was reported in the compound heterozygous state in an individual with atrial standstill and His-Purkinje system disease. This variant was also identified in this individual's mother and sister who did not carry the other SCN5A variant and had milder phenotypic manifestations (Baskar et al. 2014. PubMed ID: 25171853). In the same publication, this variant was also reported in an unrelated individual with Brugada syndrome, although detailed clinical information was not available. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in SCN5A are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Nov 24, 2024