U.S. flag

An official website of the United States government

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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 9, 2021
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:
RCV002321726.9

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:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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
SCV002609037Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jul 9, 2021) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease.

Baskar S, Ackerman MJ, Clements D, Mayuga KA, Aziz PF.

J Pediatr. 2014 Nov;165(5):1050-2. doi: 10.1016/j.jpeds.2014.07.036. Epub 2014 Aug 27.

PubMed [citation]
PMID:
25171853

Details of each submission

From Ambry Genetics, SCV002609037.2

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

Description

The c.3142_3153del12ins11 pathogenic mutation, located in coding exon 16 of the SCN5A gene, results from the deletion of 12 nucleotides and insertion of 11 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.P1048Sfs*97), and is located in the interdomain linker DII/DIII region. This variant was reported in a child with syncope, progressive sinus node dysfunction, and His-Purkinje system disease with atrial standstill, who also had an SCN5A missense variant detected in trans; her mother and sister, who were heterozygous for only c.3142_3153del12ins11, showed mild cardiac findings but were asymptomatic at the time of evaluation (Baskar S et al. J Pediatr, 2014 Nov;165:1050-2). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 24, 2024