NM_172201.1(KCNE2):c.-13+5G>A AND Long QT syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000381892.1

Allele description

NM_172201.1(KCNE2):c.-13+5G>A

Gene:
KCNE2:potassium voltage-gated channel subfamily E regulatory subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_172201.1(KCNE2):c.-13+5G>A
HGVS:
  • NC_000021.9:g.34364156G>A
  • NG_008804.1:g.5133G>A
  • NM_172201.1:c.-13+5G>A
  • LRG_291t1:c.-13+5G>A
  • LRG_291:g.5133G>A
  • NC_000021.8:g.35736455G>A
Links:
dbSNP: rs786205806
NCBI 1000 Genomes Browser:
rs786205806
Molecular consequence:
  • NM_172201.1:c.-13+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MeSH: D008133; MedGen: C0023976; OMIM: PS192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000435617Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000435617.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 8, 2017