NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter) AND Maple syrup urine disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 8, 2023
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:: RCV003523262.2

Allele description [Variation Report for NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)]

NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)

HGVS:

NC_000006.12:g.80168929G>T
NG_009775.2:g.67303G>T
NG_009775.3:g.67321G>T
NM_000056.5:c.532G>T
NM_001318975.1:c.322G>T
NM_001424035.1:c.532G>T
NM_001424036.1:c.532G>T
NM_001424037.1:c.532G>T
NM_001424038.1:c.532G>T
NM_001424039.1:c.532G>T
NM_001424040.1:c.532G>T
NM_001424041.1:c.532G>T
NM_001424042.1:c.532G>T
NM_001424043.1:c.322G>T
NM_001424044.1:c.532G>T
NM_001424045.1:c.532G>T
NM_183050.3:c.532G>T
NM_183050.4:c.532G>TMANE SELECT
NP_000047.1:p.Gly178Ter
NP_001305904.1:p.Gly108Ter
NP_001410964.1:p.Gly178Ter
NP_001410965.1:p.Gly178Ter
NP_001410966.1:p.Gly178Ter
NP_001410967.1:p.Gly178Ter
NP_001410968.1:p.Gly178Ter
NP_001410969.1:p.Gly178Ter
NP_001410970.1:p.Gly178Ter
NP_001410971.1:p.Gly178Ter
NP_001410972.1:p.Gly108Ter
NP_001410973.1:p.Gly178Ter
NP_001410974.1:p.Gly178Ter
NP_898871.1:p.Gly178Ter
NC_000006.11:g.80878646G>T
NR_134945.2:n.555G>T
NR_187561.1:n.555G>T
NR_187562.1:n.555G>T
NR_187563.1:n.555G>T
NR_187564.1:n.673G>T
NR_187565.1:n.555G>T

Protein change:

G108*

Molecular consequence:

NR_134945.2:n.555G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_187561.1:n.555G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_187562.1:n.555G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_187563.1:n.555G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_187564.1:n.673G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_187565.1:n.555G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000056.5:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001318975.1:c.322G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424035.1:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424036.1:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424037.1:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424038.1:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424039.1:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424040.1:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424041.1:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424042.1:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424043.1:c.322G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424044.1:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001424045.1:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_183050.4:c.532G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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cyclic nucleotide-binding domain-containing protein [Paraburkholderia acidiphila...
cyclic nucleotide-binding domain-containing protein [Paraburkholderia acidiphila]
gi|1787165038|gnl|PRJNA534068|FAZ97 0|gb|QGZ59056.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004249251	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 8, 2023)	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

SCV004249251

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 8, 2023)

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, SCV004249251.1

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

Description

This sequence change creates a premature translational stop signal (p.Gly178*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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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