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NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) AND BCKDHB-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 22, 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:
RCV003403562.4

Allele description [Variation Report for NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)]

NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)

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.1159C>T (p.Arg387Ter)
HGVS:
  • NC_000006.12:g.80343784C>T
  • NG_009775.2:g.242158C>T
  • NM_000056.5:c.1159C>T
  • NM_001318975.1:c.949C>T
  • NM_183050.4:c.1159C>TMANE SELECT
  • NP_000047.1:p.Arg387Ter
  • NP_000047.1:p.Arg387Ter
  • NP_001305904.1:p.Arg317Ter
  • NP_898871.1:p.Arg387Ter
  • NC_000006.11:g.81053501C>T
  • NM_000056.4:c.1159C>T
  • NM_183050.2:c.1159C>T
  • NM_183050.3:c.1159C>T
  • NR_134945.2:n.1276C>T
Protein change:
R317*
Links:
dbSNP: rs751599203
NCBI 1000 Genomes Browser:
rs751599203
Molecular consequence:
  • NR_134945.2:n.1276C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000056.5:c.1159C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318975.1:c.949C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_183050.4:c.1159C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
BCKDHB-related disorder
Synonyms:
BCKDHB-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004105315PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 22, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004105315.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The BCKDHB c.1159C>T variant is predicted to result in premature protein termination (p.Arg387*). This variant has been reported in the homozygous and compound heterozygous states in individuals with maple syrup urine disease (Ali et al. 2018. PubMed ID: 30228974; Strauss et al. 2020. PubMed ID: 31980395). This variant is reported in 0.038% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-81053501-C-T). Nonsense variants in BCKDHB are expected to be pathogenic, and this variant has been classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/555909). Given the evidence, we interpret c.1159C>T (p.Arg387*) as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024