NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) AND Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 28, 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:: RCV000988596.1

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:: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Synonyms:: LIPOYLTRANSFERASE 2 DEFICIENCY
Identifiers:: MONDO: MONDO:0060562; MedGen: C4540052; OMIM: 617668

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001138375	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Uncertain significance (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001138375

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Uncertain significance
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001138375.1

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

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

Last Updated: Sep 29, 2024

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