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NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 13, 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:
RCV000621765.4

Allele description [Variation Report for NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)]

NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)

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.10A>G (p.Thr4Ala)
HGVS:
  • NC_000011.10:g.74457554T>C
  • NG_011833.1:g.15002A>G
  • NM_005472.5:c.10A>GMANE SELECT
  • NP_005463.1:p.Thr4Ala
  • NP_005463.1:p.Thr4Ala
  • LRG_439t1:c.10A>G
  • LRG_439:g.15002A>G
  • LRG_439p1:p.Thr4Ala
  • NC_000011.9:g.74168599T>C
  • NM_005472.4:c.10A>G
  • Q9Y6H6:p.Thr4Ala
Protein change:
T4A; THR4ALA
Links:
UniProtKB: Q9Y6H6#VAR_058635; OMIM: 604433.0003; dbSNP: rs200856070
NCBI 1000 Genomes Browser:
rs200856070
Molecular consequence:
  • NM_005472.5:c.10A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000736218Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 13, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.

Ohno S, Toyoda F, Zankov DP, Yoshida H, Makiyama T, Tsuji K, Honda T, Obayashi K, Ueyama H, Shimizu W, Miyamoto Y, Kamakura S, Matsuura H, Kita T, Horie M.

Hum Mutat. 2009 Apr;30(4):557-63. doi: 10.1002/humu.20834.

PubMed [citation]
PMID:
19306396

KCNE3 T4A as the genetic basis of Brugada-pattern electrocardiogram.

Nakajima T, Wu J, Kaneko Y, Ashihara T, Ohno S, Irie T, Ding WG, Matsuura H, Kurabayashi M, Horie M.

Circ J. 2012;76(12):2763-72. Epub 2012 Sep 13.

PubMed [citation]
PMID:
22987075
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000736218.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024