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NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) AND Dilated cardiomyopathy 1E

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 9, 2018
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:
RCV001149370.12

Allele description [Variation Report for NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)]

NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)

Genes:
LOC110121269:VISTA enhancer hs2177 [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.3266C>T (p.Pro1089Leu)
Other names:
p.P1090L:CCG>CTG
HGVS:
  • NC_000003.12:g.38579455G>A
  • NG_008934.1:g.75218C>T
  • NG_053884.1:g.1194G>A
  • NM_000335.5:c.3266C>TMANE SELECT
  • NM_001099404.2:c.3269C>T
  • NM_001099405.2:c.3269C>T
  • NM_001160160.2:c.3266C>T
  • NM_001160161.2:c.3228+1476C>T
  • NM_001354701.2:c.3266C>T
  • NM_198056.3:c.3269C>T
  • NP_000326.2:p.Pro1089Leu
  • NP_001092874.1:p.Pro1090Leu
  • NP_001092875.1:p.Pro1090Leu
  • NP_001153632.1:p.Pro1089Leu
  • NP_001341630.1:p.Pro1089Leu
  • NP_932173.1:p.Pro1090Leu
  • NP_932173.1:p.Pro1090Leu
  • LRG_289t1:c.3269C>T
  • LRG_289:g.75218C>T
  • LRG_289p1:p.Pro1090Leu
  • NC_000003.11:g.38620946G>A
  • NM_198056.2:c.3269C>T
  • Q14524:p.Pro1090Leu
  • c.3269C>T
Protein change:
P1089L
Links:
UniProtKB: Q14524#VAR_014464; dbSNP: rs1805125
NCBI 1000 Genomes Browser:
rs1805125
Molecular consequence:
  • NM_001160161.2:c.3228+1476C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000335.5:c.3266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.3269C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.3269C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.3266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.3266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.3269C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001310319Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(May 9, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.

Ackerman MJ, Splawski I, Makielski JC, Tester DJ, Will ML, Timothy KW, Keating MT, Jones G, Chadha M, Burrow CR, Stephens JC, Xu C, Judson R, Curran ME.

Heart Rhythm. 2004 Nov;1(5):600-7.

PubMed [citation]
PMID:
15851227

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001310319.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Nov 10, 2024