NM_000238.4(KCNH2):c.2696C>G (p.Thr899Arg) AND Cardiovascular phenotype

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 17, 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:: RCV000620755.1

Allele description

NM_000238.4(KCNH2):c.2696C>G (p.Thr899Arg)

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.2696C>G (p.Thr899Arg)

HGVS:

NC_000007.14:g.150947875G>C
NG_008916.1:g.35052C>G
NM_000238.4:c.2696C>GMANE SELECT
NM_172057.3:c.1676C>G
NP_000229.1:p.Thr899Arg
NP_000229.1:p.Thr899Arg
NP_742054.1:p.Thr559Arg
LRG_288t1:c.2696C>G
LRG_288:g.35052C>G
LRG_288p1:p.Thr899Arg
NC_000007.13:g.150644963G>C
NM_000238.3:c.2696C>G

Protein change:

T559R

Links:

dbSNP: rs1480554629

NCBI 1000 Genomes Browser:

rs1480554629

Molecular consequence:

NM_000238.4:c.2696C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.1676C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000737969	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Uncertain significance (Jul 17, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000737969

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Uncertain significance
(Jul 17, 2019)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000737969.3

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

Description

The p.T899R variant (also known as c.2696C>G), located in coding exon 12 of the KCNH2 gene, results from a C to G substitution at nucleotide position 2696. The threonine at codon 899 is replaced by arginine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 5, 2022

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