NM_005472.5(KCNE3):c.248G>A (p.Arg83His) AND Cardiomyopathy

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 10, 2019
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:: RCV000852657.2

Allele description [Variation Report for NM_005472.5(KCNE3):c.248G>A (p.Arg83His)]

NM_005472.5(KCNE3):c.248G>A (p.Arg83His)

Genes:

LIPT2:lipoyl(octanoyl) transferase 2 [Gene - OMIM - HGNC]
KCNE3:potassium voltage-gated channel subfamily E regulatory subunit 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

Preferred name:

NM_005472.5(KCNE3):c.248G>A (p.Arg83His)

Other names:

p.R83H:CGC>CAC

HGVS:

NC_000011.10:g.74457316C>T
NG_011833.1:g.15240G>A
NM_005472.5:c.248G>AMANE SELECT
NP_005463.1:p.Arg83His
NP_005463.1:p.Arg83His
LRG_439t1:c.248G>A
LRG_439:g.15240G>A
LRG_439p1:p.Arg83His
NC_000011.9:g.74168361C>T
NM_005472.4:c.248G>A
Q9Y6H6:p.Arg83His

Protein change:

R83H; ARG83HIS

Links:

UniProtKB: Q9Y6H6#VAR_015064; OMIM: 604433.0001; dbSNP: rs17215437

NCBI 1000 Genomes Browser:

rs17215437

Molecular consequence:

NM_005472.5:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000995363	Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 10, 2019)	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

SCV000995363

Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 10, 2019)

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	yes	2	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 Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego, SCV000995363.1

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

#	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		2	not provided	not provided	not provided

Last Updated: Apr 20, 2025

ClinVar

Relating variation to medicine