NM_198056.2(SCN5A):c.612-229T>G AND Long QT syndrome 3

Clinical significance:Pathogenic (Last evaluated: Aug 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000714740.2

Allele description [Variation Report for NM_198056.2(SCN5A):c.612-229T>G]

NM_198056.2(SCN5A):c.612-229T>G

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_198056.2(SCN5A):c.612-229T>G
HGVS:
  • NC_000003.12:g.38614063A>C
  • NG_008934.1:g.40610T>G
  • NM_000335.4:c.612-229T>G
  • NM_001099404.1:c.615T>G
  • NM_001099405.1:c.615T>G
  • NM_001160160.2:c.615T>G
  • NM_001160161.1:c.615T>G
  • NM_001354701.2:c.615T>G
  • NM_198056.2:c.612-229T>G
  • NP_001092874.1:p.Tyr205Ter
  • NP_001092875.1:p.Tyr205Ter
  • NP_001153632.1:p.Tyr205Ter
  • NP_001153633.1:p.Tyr205Ter
  • NP_001341630.1:p.Tyr205Ter
  • LRG_289t1:c.612-229T>G
  • LRG_289t2:c.612-229T>G
  • LRG_289t3:c.615T>G
  • LRG_289:g.40610T>G
  • LRG_289p3:p.Tyr205Ter
  • NC_000003.11:g.38655554A>C
Protein change:
Y205*
Links:
dbSNP: rs765669597
NCBI 1000 Genomes Browser:
rs765669597
Molecular consequence:
  • NM_000335.4:c.612-229T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198056.2:c.612-229T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099404.1:c.615T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001099405.1:c.615T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001160160.2:c.615T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001160161.1:c.615T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354701.2:c.615T>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Long QT syndrome 3 (LQT3)
Identifiers:
MONDO: MONDO:0011377; MedGen: C1859062; Orphanet: 101016; Orphanet: 768; OMIM: 603830

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000845468Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Pathogenic
(Aug 7, 2018)
unknownclinical testing

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

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 Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000845468.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 7, 2021

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