NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 26, 2018
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:: RCV002453372.9

Allele description [Variation Report for NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser)]

NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser)

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.2617G>A (p.Gly873Ser)

HGVS:

NC_000007.14:g.150948519C>T
NG_008916.1:g.34408G>A
NM_000238.4:c.2617G>AMANE SELECT
NM_172057.3:c.1597G>A
NP_000229.1:p.Gly873Ser
NP_000229.1:p.Gly873Ser
NP_742054.1:p.Gly533Ser
LRG_288t1:c.2617G>A
LRG_288:g.34408G>A
LRG_288p1:p.Gly873Ser
NC_000007.13:g.150645607C>T
NM_000238.2:c.2617G>A
NM_000238.3:c.2617G>A

Protein change:

G533S

Links:

dbSNP: rs41314354

NCBI 1000 Genomes Browser:

rs41314354

Molecular consequence:

NM_000238.4:c.2617G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.1597G>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
SCV002739640	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Dec 26, 2018)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 14661677, 16043162, 16487223, 19841300, 22949429, 27711072 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002739640

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Dec 26, 2018)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

Ackerman MJ, Tester DJ, Jones GS, Will ML, Burrow CR, Curran ME.

Mayo Clin Proc. 2003 Dec;78(12):1479-87.

PubMed [citation]

PMID:: 14661677

Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome.

Verkerk AO, Wilders R, Schulze-Bahr E, Beekman L, Bhuiyan ZA, Bertrand J, Eckardt L, Lin D, Borggrefe M, Breithardt G, Mannens MM, Tan HL, Wilde AA, Bezzina CR.

Cardiovasc Res. 2005 Dec 1;68(3):441-53. Epub 2005 Jul 25.

PubMed [citation]

PMID:: 16043162

See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV002739640.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

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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