NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 24, 2021
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:: RCV002429839.9

Allele description [Variation Report for NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)]

NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)

HGVS:

NC_000007.14:g.150947870G>A
NG_008916.1:g.35057C>T
NM_000238.4:c.2701C>TMANE SELECT
NM_172057.3:c.1681C>T
NP_000229.1:p.Gln901Ter
NP_742054.1:p.Gln561Ter
LRG_288t1:c.2701C>T
LRG_288:g.35057C>T
NC_000007.13:g.150644958G>A
NM_000238.3:c.2701C>T

Protein change:

Q561*

Links:

dbSNP: rs1800975855

NCBI 1000 Genomes Browser:

rs1800975855

Molecular consequence:

NM_000238.4:c.2701C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_172057.3:c.1681C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002741734	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 24, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002741734

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 24, 2021)

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, SCV002741734.2

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

Description

The p.Q901* pathogenic mutation (also known as c.2701C>T), located in coding exon 12 of the KCNH2 gene, results from a C to T substitution at nucleotide position 2701. This changes the amino acid from a glutamine to a stop codon within coding exon 12. 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: Nov 3, 2024

ClinVar

Relating variation to medicine