NM_183050.4(BCKDHB):c.559_560del (p.Gly187fs) AND Maple syrup urine disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 2, 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:: RCV002307963.2

Allele description [Variation Report for NM_183050.4(BCKDHB):c.559_560del (p.Gly187fs)]

NM_183050.4(BCKDHB):c.559_560del (p.Gly187fs)

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.559_560del (p.Gly187fs)

HGVS:

NC_000006.12:g.80168956_80168957del
NG_009775.3:g.67348_67349del
NM_000056.5:c.559_560del
NM_001318975.1:c.349_350del
NM_183050.4:c.559_560delMANE SELECT
NP_000047.1:p.Gly187fs
NP_001305904.1:p.Gly117fs
NP_898871.1:p.Gly187fs
NC_000006.11:g.80878673_80878674del
NG_009775.2:g.67330_67331del
NR_134945.2:n.582_583del

Protein change:

G117fs

Molecular consequence:

NM_000056.5:c.559_560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318975.1:c.349_350del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_183050.4:c.559_560del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_134945.2:n.582_583del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002604427	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Mar 2, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002604427

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Mar 2, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002604427.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

NM_183050.2(BCKDHB):c.559_560delGG(G187Lfs*14) is expected to be pathogenic in the context of maple syrup urine disease type Ib. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in BCKDHB, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Apr 6, 2024

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