NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 31, 2016
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:: RCV000455941.4

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000539423	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Mar 31, 2016)	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

SCV000539423

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Mar 31, 2016)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000539423.1

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

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 2 probands, some functional data, but high in ExAC: 0.1% (9/8646) East Asian

#	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: Sep 29, 2024

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