NM_000238.4(KCNH2):c.2376dup (p.Asp793fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 23, 2018
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:: RCV002457824.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.2376dup (p.Asp793fs)]

NM_000238.4(KCNH2):c.2376dup (p.Asp793fs)

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.2376dup (p.Asp793fs)

HGVS:

NC_000007.14:g.150950190dup
NG_008916.1:g.32737dup
NM_000238.4:c.2376dupMANE SELECT
NM_001204798.2:c.1356dup
NM_001406753.1:c.2088dup
NM_001406755.1:c.2199dup
NM_001406756.1:c.2088dup
NM_001406757.1:c.2076dup
NM_172056.3:c.2376dup
NM_172057.3:c.1356dup
NP_000229.1:p.Asp793Argfs
NP_000229.1:p.Asp793fs
NP_001191727.1:p.Asp453fs
NP_001393682.1:p.Asp697Argfs
NP_001393684.1:p.Asp734Argfs
NP_001393685.1:p.Asp697Argfs
NP_001393686.1:p.Asp693Argfs
NP_742053.1:p.Asp793Argfs
NP_742053.1:p.Asp793fs
NP_742054.1:p.Asp453Argfs
NP_742054.1:p.Asp453fs
LRG_288t1:c.2376dup
LRG_288t2:c.2376dup
LRG_288t3:c.1356dup
LRG_288:g.32737dup
LRG_288p1:p.Asp793Argfs
LRG_288p2:p.Asp793fs
LRG_288p3:p.Asp453Argfs
NC_000007.13:g.150647278dup
NM_000238.3:c.2376dup
NM_000238.3:c.2376dupC
NM_172056.2:c.2376dup
NM_172057.2:c.1356dup
NR_176254.1:n.2784dup
NR_176255.1:n.1657dup

Protein change:

D453fs

Molecular consequence:

NM_000238.4:c.2376dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001204798.2:c.1356dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406753.1:c.2088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406755.1:c.2199dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406756.1:c.2088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406757.1:c.2076dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172056.3:c.2376dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172057.3:c.1356dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002735903	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 23, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002735903

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 23, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002735903.2

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

Description

The c.2376dupC pathogenic mutation, located in coding exon 9 of the KCNH2 gene, results from a duplication of C at nucleotide position 2376, causing a translational frameshift with a predicted alternate stop codon (p.D793Rfs*11). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024

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