NM_000238.4(KCNH2):c.278A>G (p.Lys93Arg) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 27, 2020
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:: RCV001721509.10

Allele description [Variation Report for NM_000238.4(KCNH2):c.278A>G (p.Lys93Arg)]

NM_000238.4(KCNH2):c.278A>G (p.Lys93Arg)

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.278A>G (p.Lys93Arg)

HGVS:

NC_000007.14:g.150974740T>C
NG_008916.1:g.8187A>G
NM_000238.4:c.278A>GMANE SELECT
NM_001406755.1:c.101A>G
NM_172056.3:c.278A>G
NP_000229.1:p.Lys93Arg
NP_000229.1:p.Lys93Arg
NP_001393684.1:p.Lys34Arg
NP_742053.1:p.Lys93Arg
NP_742053.1:p.Lys93Arg
LRG_288t1:c.278A>G
LRG_288t2:c.278A>G
LRG_288:g.8187A>G
LRG_288p1:p.Lys93Arg
LRG_288p2:p.Lys93Arg
NC_000007.13:g.150671828T>C
NM_000238.2:c.278A>G
NM_000238.3:c.278A>G
NM_172056.2:c.278A>G
NR_176254.1:n.686A>G

Protein change:

K34R

Links:

dbSNP: rs780197027

NCBI 1000 Genomes Browser:

rs780197027

Molecular consequence:

NM_000238.4:c.278A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406755.1:c.101A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172056.3:c.278A>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
SCV000714618	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 27, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000714618

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 27, 2020)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000714618.3

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

Description

Identified in patients with LQTS in the literature, although no clinical information was provided (Itoh et al., 2016); Reported in ClinVar (ClinVar Variant ID# 413325; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26669661, 28988457)

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

Last Updated: Jun 29, 2024

ClinVar

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