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:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000583600	Institute of Human Genetics, University of Goettingen	no assertion criteria provided	Likely pathogenic (Jul 17, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000583600

Institute of Human Genetics, University of Goettingen

no assertion criteria provided

Likely pathogenic
(Jul 17, 2017)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	not provided

Description

Long OT syndrome

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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