NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys) AND Deficiency of hydroxymethylglutaryl-CoA lyase

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2000
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000012736.4

Allele description [Variation Report for NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys)]

NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys)

Gene:

HMGCL:3-hydroxy-3-methylglutaryl-CoA lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys)

HGVS:

NC_000001.11:g.23804441C>T
NG_007068.1:g.1364G>A
NG_013061.1:g.26019G>A
NM_000191.3:c.835G>AMANE SELECT
NM_001166059.2:c.622G>A
NP_000182.2:p.Glu279Lys
NP_001159531.1:p.Glu208Lys
NC_000001.10:g.24130931C>T
P35914:p.Glu279Lys

Protein change:

E208K; GLU279LYS

Links:

UniProtKB: P35914#VAR_014202; OMIM: 613898.0005; dbSNP: rs121964998

NCBI 1000 Genomes Browser:

rs121964998

Molecular consequence:

NM_000191.3:c.835G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001166059.2:c.622G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Deficiency of hydroxymethylglutaryl-CoA lyase (HMGCLD)
Synonyms:: HMG CoA lyase deficiency; Defect in leucine metabolism; 3-hydroxy-3-methylglutaric aciduria; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009520; MedGen: C0268601; Orphanet: 20; OMIM: 246450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032971	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032971

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2000)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

Muroi J, Yorifuji T, Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T.

Hum Genet. 2000 Oct;107(4):320-6.

PubMed [citation]

PMID:: 11129331

Details of each submission

From OMIM, SCV000032971.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Among the 5 known Japanese patients with HMG-CoA lyase deficiency (HMGCLD; 246450), Muroi et al. (2000) found that an 835G-A transition in the HMGCL gene, resulting in a glu279-to-lys (E279K) amino acid change, accounted for 3 of 10 disease alleles.

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

Last Updated: Mar 30, 2024

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