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NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) AND Long QT syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 17, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000495854.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)]

NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)
HGVS:
  • NC_000007.14:g.150948457_150948461dup
  • NG_008916.1:g.34466_34470dup
  • NM_000238.4:c.2675_2679dupMANE SELECT
  • NM_172057.3:c.1655_1659dup
  • NP_000229.1:p.Arg894fs
  • NP_742054.1:p.Arg554fs
  • LRG_288:g.34466_34470dup
  • NC_000007.13:g.150645544_150645545insCCTGC
  • NC_000007.13:g.150645545_150645549dup
  • NM_000238.3:c.2675_2679dupGCAGG
Protein change:
R554fs
Links:
dbSNP: rs1131692183
NCBI 1000 Genomes Browser:
rs1131692183
Molecular consequence:
  • NM_000238.4:c.2675_2679dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172057.3:c.1655_1659dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Long QT syndrome 2 (LQT2)
Identifiers:
MONDO: MONDO:0013367; MedGen: C3150943; Orphanet: 101016; Orphanet: 768; OMIM: 613688

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000583600Institute of Human Genetics, University of Goettingen
no assertion criteria provided
Likely pathogenic
(Jul 17, 2017) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV000583600.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

Long OT syndrome

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024