NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro) AND Branched-chain keto acid dehydrogenase kinase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 19, 2012
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:: RCV000032961.8

Allele description [Variation Report for NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro)]

NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro)

Gene:

BCKDK:branched chain keto acid dehydrogenase kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro)

HGVS:

NC_000016.10:g.31110716G>C
NG_033011.1:g.7423G>C
NM_001122957.4:c.671G>C
NM_001271926.3:c.671G>C
NM_005881.4:c.671G>CMANE SELECT
NP_001116429.1:p.Arg224Pro
NP_001258855.1:p.Arg224Pro
NP_005872.2:p.Arg224Pro
NC_000016.9:g.31122037G>C
O14874:p.Arg224Pro

Protein change:

R224P; ARG224PRO

Links:

UniProtKB: O14874#VAR_069037; OMIM: 614901.0003; dbSNP: rs147210405

NCBI 1000 Genomes Browser:

rs147210405

Molecular consequence:

NM_001122957.4:c.671G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001271926.3:c.671G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005881.4:c.671G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Branched-chain keto acid dehydrogenase kinase deficiency (BCKDKD)
Synonyms:: BCKDK DEFICIENCY
Identifiers:: MONDO: MONDO:0013970; MedGen: C3554078; Orphanet: 308410; OMIM: 614923

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056734	OMIM	no assertion criteria provided	Pathogenic (Oct 19, 2012)	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

SCV000056734

OMIM

no assertion criteria provided

Pathogenic
(Oct 19, 2012)

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

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.

Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6.

PubMed [citation]

PMID:: 22956686
PMCID:: PMC3704165

Details of each submission

From OMIM, SCV000056734.3

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

Description

In a consanguineous Libyan family (family 1435) with 2 children with branched-chain alpha-keto acid dehydrogenase kinase deficiency (BCKDKD; 614923), Novarino et al. (2012) identified homozygosity for a G-to-C transversion at nucleotide 671 of the BCKDK gene, resulting in an arg-to-pro substitution at codon 224. Arginine at position 224 is conserved from human to zebrafish, and mutation to proline converts beta-sheet to an unfolded domain in a flexible linker domain of the molecule.

#	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 10, 2024

ClinVar

Relating variation to medicine