NM_000238.4(KCNH2):c.2200C>G (p.Arg734Gly) AND Cardiac arrhythmia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 15, 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:: RCV001842187.11

Allele description [Variation Report for NM_000238.4(KCNH2):c.2200C>G (p.Arg734Gly)]

NM_000238.4(KCNH2):c.2200C>G (p.Arg734Gly)

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.2200C>G (p.Arg734Gly)

HGVS:

NC_000007.14:g.150950366G>C
NG_008916.1:g.32561C>G
NM_000238.4:c.2200C>GMANE SELECT
NM_001204798.2:c.1180C>G
NM_001406753.1:c.1912C>G
NM_001406755.1:c.2023C>G
NM_001406756.1:c.1912C>G
NM_001406757.1:c.1900C>G
NM_172056.3:c.2200C>G
NM_172057.3:c.1180C>G
NP_000229.1:p.Arg734Gly
NP_000229.1:p.Arg734Gly
NP_001191727.1:p.Arg394Gly
NP_001393682.1:p.Arg638Gly
NP_001393684.1:p.Arg675Gly
NP_001393685.1:p.Arg638Gly
NP_001393686.1:p.Arg634Gly
NP_742053.1:p.Arg734Gly
NP_742053.1:p.Arg734Gly
NP_742054.1:p.Arg394Gly
NP_742054.1:p.Arg394Gly
LRG_288t1:c.2200C>G
LRG_288t2:c.2200C>G
LRG_288t3:c.1180C>G
LRG_288:g.32561C>G
LRG_288p1:p.Arg734Gly
LRG_288p2:p.Arg734Gly
LRG_288p3:p.Arg394Gly
NC_000007.13:g.150647454G>C
NM_000238.3:c.2200C>G
NM_172056.2:c.2200C>G
NM_172057.2:c.1180C>G
NR_176254.1:n.2608C>G
NR_176255.1:n.1481C>G

Protein change:

R394G

Links:

dbSNP: rs143072395

NCBI 1000 Genomes Browser:

rs143072395

Molecular consequence:

NM_000238.4:c.2200C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204798.2:c.1180C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406753.1:c.1912C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406755.1:c.2023C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406756.1:c.1912C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406757.1:c.1900C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172056.3:c.2200C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.1180C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiac arrhythmia
Synonyms:: Cardiac rhythm disease
Identifiers:: EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675

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MAG: Ignisphaera sp. isolate DRTY-8_201803_bins_15, whole genome shotgun sequenc...
MAG: Ignisphaera sp. isolate DRTY-8_201803_bins_15, whole genome shotgun sequencing project
gi|2724474499|gb|JAVZTO000000000.1| O010000000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002051996	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 15, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002051996

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 15, 2021)

germline

clinical testing

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV002051996.1

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

Description

This missense variant replaces arginine with glycine at codon 734 of the KCNH2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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

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