NM_000238.4(KCNH2):c.1067G>A (p.Arg356His) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 26, 2024
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:: RCV000249792.11

Allele description [Variation Report for NM_000238.4(KCNH2):c.1067G>A (p.Arg356His)]

NM_000238.4(KCNH2):c.1067G>A (p.Arg356His)

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.1067G>A (p.Arg356His)

HGVS:

NC_000007.14:g.150957352C>T
NG_008916.1:g.25575G>A
NM_000238.4:c.1067G>AMANE SELECT
NM_001406753.1:c.779G>A
NM_001406755.1:c.890G>A
NM_001406756.1:c.779G>A
NM_001406757.1:c.767G>A
NM_172056.3:c.1067G>A
NP_000229.1:p.Arg356His
NP_000229.1:p.Arg356His
NP_001393682.1:p.Arg260His
NP_001393684.1:p.Arg297His
NP_001393685.1:p.Arg260His
NP_001393686.1:p.Arg256His
NP_742053.1:p.Arg356His
NP_742053.1:p.Arg356His
LRG_288t1:c.1067G>A
LRG_288t2:c.1067G>A
LRG_288:g.25575G>A
LRG_288p1:p.Arg356His
LRG_288p2:p.Arg356His
NC_000007.13:g.150654440C>T
NM_000238.2:c.1067G>A
NM_000238.3:c.1067G>A
NM_172056.2:c.1067G>A
NR_176254.1:n.1475G>A

Protein change:

R256H

Links:

dbSNP: rs730880118

NCBI 1000 Genomes Browser:

rs730880118

Molecular consequence:

NM_000238.4:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406753.1:c.779G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406755.1:c.890G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406756.1:c.779G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406757.1:c.767G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172056.3:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000318610	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Feb 26, 2024)	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

SCV000318610

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Feb 26, 2024)

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

Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

Riuró H, Campuzano O, Berne P, Arbelo E, Iglesias A, Pérez-Serra A, Coll-Vidal M, Partemi S, Mademont-Soler I, Picó F, Allegue C, Oliva A, Gerstenfeld E, Sarquella-Brugada G, Castro-Urda V, Fernández-Lozano I, Mont L, Brugada J, Scornik FS, Brugada R.

Eur J Hum Genet. 2015 Jan;23(1):79-85. doi: 10.1038/ejhg.2014.54. Epub 2014 Mar 26.

PubMed [citation]

PMID:: 24667783
PMCID:: PMC4266740

Details of each submission

From Ambry Genetics, SCV000318610.7

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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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