NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 2, 2019
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:: RCV002438070.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs)]

NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs)

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.2900_2903dup (p.Gly969fs)

HGVS:

NC_000007.14:g.150947669_150947672dup
NG_008916.1:g.35256_35259dup
NM_000238.4:c.2900_2903dupMANE SELECT
NM_001406753.1:c.2611_2614dup
NM_172057.3:c.1880_1883dup
NP_000229.1:p.Gly969Alafs
NP_000229.1:p.Gly969fs
NP_001393682.1:p.Gly873Alafs
NP_742054.1:p.Gly629Alafs
NP_742054.1:p.Gly629fs
LRG_288t1:c.2899_2902dup
LRG_288t3:c.1879_1882dup
LRG_288:g.35256_35259dup
LRG_288p1:p.Gly969Alafs
LRG_288p3:p.Gly629Alafs
NC_000007.13:g.150644757_150644760dup
NM_000238.3:c.2899_2902dup
NM_000238.3:c.2900_2903dupCGCC
NM_172057.2:c.1879_1882dup
NR_176254.1:n.3120_3123dup
NR_176255.1:n.1993_1996dup

Protein change:

G629fs

Molecular consequence:

NM_000238.4:c.2900_2903dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406753.1:c.2611_2614dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172057.3:c.1880_1883dup - 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
SCV002752352	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 2, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002752352

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 2, 2019)

germline

clinical testing

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

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

Citations

PubMed

Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

Berge KE, Haugaa KH, Früh A, Anfinsen OG, Gjesdal K, Siem G, Oyen N, Greve G, Carlsson A, Rognum TO, Hallerud M, Kongsgård E, Amlie JP, Leren TP.

Scand J Clin Lab Invest. 2008;68(5):362-8. doi: 10.1080/00365510701765643.

PubMed [citation]

PMID:: 18752142

Details of each submission

From Ambry Genetics, SCV002752352.2

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

Description

The c.2900_2903dupCGCC pathogenic mutation, located in coding exon 12 of the KCNH2 gene, results from a duplication of CGCC at nucleotide position 2900, causing a translational frameshift with a predicted alternate stop codon (p.G969Afs*151). This mutation was detected in an individual with clinical suspicion of long QT syndrome (LQTS) (Berge KE et al. Scand. J. Clin. Lab. Invest., 2008;68:362-8). In additional to the clinical data presented in the literature, 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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