NM_183050.4(BCKDHB):c.101del (p.Gly34fs) AND Maple syrup urine disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 28, 2022
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:: RCV002996833.3

Allele description [Variation Report for NM_183050.4(BCKDHB):c.101del (p.Gly34fs)]

NM_183050.4(BCKDHB):c.101del (p.Gly34fs)

Gene:

BCKDHB:branched chain keto acid dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_183050.4(BCKDHB):c.101del (p.Gly34fs)

HGVS:

NC_000006.12:g.80106794del
NG_009775.2:g.5168del
NG_009775.3:g.5186del
NG_108643.1:g.428del
NM_000056.5:c.101del
NM_001318975.1:c.-15+111del
NM_183050.3:c.101del
NM_183050.4:c.101delMANE SELECT
NP_000047.1:p.Gly34fs
NP_898871.1:p.Gly34fs
NC_000006.11:g.80816508del
NC_000006.11:g.80816511del
NR_134945.2:n.124del

Protein change:

G34fs

Molecular consequence:

NM_000056.5:c.101del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_183050.4:c.101del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318975.1:c.-15+111del - intron variant - [Sequence Ontology: SO:0001627]
NR_134945.2:n.124del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Maple syrup urine disease (MSUD)
Identifiers:: MONDO: MONDO:0009563; MeSH: D008375; MedGen: C0024776; Orphanet: 511; OMIM: PS248600

Recent activity

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Klebsiella pneumoniae strain:KPN1009
Klebsiella pneumoniae strain:KPN1009
Klebsiella pneumoniae strain:KPN1009 Genome sequencing

BioProject
B4GALT4 [Pseudopodoces humilis]
B4GALT4 [Pseudopodoces humilis]
Gene ID:102108146

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003313757	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 28, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16786533, 22593002, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003313757

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 28, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Mutational spectrum of maple syrup urine disease in Spain.

Rodríguez-Pombo P, Navarrete R, Merinero B, Gómez-Puertas P, Ugarte M.

Hum Mutat. 2006 Jul;27(7):715.

PubMed [citation]

PMID:: 16786533

Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.

Bashyam MD, Chaudhary AK, Sinha M, Nagarajaram HA, Devi AR, Bashyam L, Reddy EC, Dalal A.

J Cell Biochem. 2012 Oct;113(10):3122-32. doi: 10.1002/jcb.24189.

PubMed [citation]

PMID:: 22593002

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003313757.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gly34Alafs*38) in the BCKDHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHB are known to be pathogenic (PMID: 16786533, 22593002).

#	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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