NM_000238.4(KCNH2):c.2954A>G (p.Asn985Ser) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000058183.11

Allele description [Variation Report for NM_000238.4(KCNH2):c.2954A>G (p.Asn985Ser)]

NM_000238.4(KCNH2):c.2954A>G (p.Asn985Ser)

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.2954A>G (p.Asn985Ser)

HGVS:

NC_000007.14:g.150947617T>C
NG_008916.1:g.35310A>G
NM_000238.4:c.2954A>GMANE SELECT
NM_172057.3:c.1934A>G
NP_000229.1:p.Asn985Ser
NP_000229.1:p.Asn985Ser
NP_742054.1:p.Asn645Ser
LRG_288t1:c.2954A>G
LRG_288:g.35310A>G
LRG_288p1:p.Asn985Ser
NC_000007.13:g.150644705T>C
NM_000238.3:c.2954A>G

Protein change:

N645S

Links:

dbSNP: rs199473541

NCBI 1000 Genomes Browser:

rs199473541

Molecular consequence:

NM_000238.4:c.2954A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.1934A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000089703	Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 16043162, 22581653

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000089703

Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust

no classification provided

not provided

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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	literature only

Citations

PubMed

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

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.

Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7.

PubMed [citation]

PMID:: 22581653
PMCID:: PMC4640174

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089703.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

This variant has been reported in the following publications (PMID:16043162).

#	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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