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NM_000335.5(SCN5A):c.3550C>T (p.Gln1184Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 19, 2012
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:
RCV000183024.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.3550C>T (p.Gln1184Ter)]

NM_000335.5(SCN5A):c.3550C>T (p.Gln1184Ter)

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.3550C>T (p.Gln1184Ter)
Other names:
p.Q1185*:CAG>TAG
HGVS:
  • NC_000003.12:g.38575410G>A
  • NG_008934.1:g.79263C>T
  • NM_000335.5:c.3550C>TMANE SELECT
  • NM_001099404.2:c.3553C>T
  • NM_001099405.2:c.3553C>T
  • NM_001160160.2:c.3550C>T
  • NM_001160161.2:c.3391C>T
  • NM_001354701.2:c.3550C>T
  • NM_198056.3:c.3553C>T
  • NP_000326.2:p.Gln1184Ter
  • NP_001092874.1:p.Gln1185Ter
  • NP_001092875.1:p.Gln1185Ter
  • NP_001153632.1:p.Gln1184Ter
  • NP_001153633.1:p.Gln1131Ter
  • NP_001341630.1:p.Gln1184Ter
  • NP_932173.1:p.Gln1185Ter
  • NP_932173.1:p.Gln1185Ter
  • LRG_289t1:c.3553C>T
  • LRG_289:g.79263C>T
  • LRG_289p1:p.Gln1185Ter
  • NC_000003.11:g.38616901G>A
  • NM_198056.2:c.3553C>T
Protein change:
Q1131*
Links:
dbSNP: rs794728873
NCBI 1000 Genomes Browser:
rs794728873
Molecular consequence:
  • NM_000335.5:c.3550C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001099404.2:c.3553C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001099405.2:c.3553C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001160160.2:c.3550C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001160161.2:c.3391C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354701.2:c.3550C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198056.3:c.3553C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000235432GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Apr 19, 2012) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000235432.10

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

Description

The Gln1185Stop mutation in the SCN5A gene has been reported previously in association with J-wave syndrome (Hu D et al., 2010). Gln1185Stop is predicted to cause loss of normal protein function either due to a prematurely truncated protein or absent protein product due to nonsense mediated mRNA decay. Other nonsense mutations in nearby residues (Trp1191Stop, Trp1192Stop) have also been reported in association with arrythmias. The NHLBI ESP Exome Variant Server reports Gln1185Stop was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, Gln1185Stop in the SCN5A gene is interpreted to be a disease-causing mutation.The variant is found in LQT panel(s).

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

Last Updated: Nov 5, 2022