NM_014362.4(HIBCH):c.129dup (p.Gly44fs) AND Beta-hydroxyisobutyryl-CoA deacylase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2015
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:: RCV000190537.4

Allele description [Variation Report for NM_014362.4(HIBCH):c.129dup (p.Gly44fs)]

NM_014362.4(HIBCH):c.129dup (p.Gly44fs)

Gene:

HIBCH:3-hydroxyisobutyryl-CoA hydrolase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q32.2

Genomic location:

Preferred name:

NM_014362.4(HIBCH):c.129dup (p.Gly44fs)

HGVS:

NC_000002.12:g.190296910dup
NG_017062.1:g.28143dup
NM_014362.4:c.129dupMANE SELECT
NM_198047.3:c.129dup
NP_055177.2:p.Gly44fs
NP_932164.1:p.Gly44fs
NC_000002.11:g.191161636dup
NM_014362.3:c.129dup

Protein change:

G44fs

Links:

OMIM: 610690.0006; dbSNP: rs767597690

NCBI 1000 Genomes Browser:

rs767597690

Molecular consequence:

NM_014362.4:c.129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198047.3:c.129dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Beta-hydroxyisobutyryl-CoA deacylase deficiency (HIBCHD)
Synonyms:: HIBCH DEFICIENCY; METHACRYLIC ACID TOXICITY; METHACRYLIC ACIDURIA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009603; MedGen: C0342738; Orphanet: 88639; OMIM: 250620

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245424	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2015)	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

SCV000245424

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2015)

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

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.

Peters H, Ferdinandusse S, Ruiter JP, Wanders RJ, Boneh A, Pitt J.

Mol Genet Metab. 2015 Aug;115(4):168-73. doi: 10.1016/j.ymgme.2015.06.008. Epub 2015 Jun 24.

PubMed [citation]

PMID:: 26163321

Details of each submission

From OMIM, SCV000245424.3

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

Description

In a female patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD; 250620), Peters et al. (2015) identified compound heterozygous mutations in the HIBCH gene: a single-basepair insertion (c.129dupA), and a c.1033G-A transition (610690.0007). The c.129dupA frameshift mutation introduces a stop codon 8 amino acids downstream. The missense c.1033G-A mutation predicts a gly345-to-ser (G345S) substitution affecting the substrate binding pocket.

#	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: Apr 23, 2022

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