NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter) AND Maple syrup urine disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 2021
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:: RCV001919750.5

Allele description [Variation Report for NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)]

NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)

Gene:

BCKDHA:branched chain keto acid dehydrogenase E1 subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)

HGVS:

NC_000019.10:g.41423030C>G
NG_013004.1:g.30242C>G
NM_000709.4:c.1028C>GMANE SELECT
NM_001164783.2:c.1025C>G
NP_000700.1:p.Ser343Ter
NP_001158255.1:p.Ser342Ter
NC_000019.9:g.41928935C>G

Protein change:

S342*

Links:

dbSNP: rs774735002

NCBI 1000 Genomes Browser:

rs774735002

Molecular consequence:

NM_000709.4:c.1028C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001164783.2:c.1025C>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002165534	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 9, 2021)	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

SCV002165534

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 9, 2021)

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, SCV002165534.4

#	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 with BCKDHA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser343*) in the BCKDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHA 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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