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

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 21, 2020
Accession:
VCV000555909.3
Variation ID:
555909
Description:
single nucleotide variant
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NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)

Allele ID
544358
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q14.1
Genomic location
6: 80343784 (GRCh38) GRCh38 UCSC
6: 81053501 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.80343784C>T
NC_000006.11:g.81053501C>T
NM_183050.4:c.1159C>T MANE Select NP_898871.1:p.Arg387Ter nonsense
... more HGVS
Protein change
R387*, R317*
Other names
-
Canonical SPDI
NC_000006.12:80343783:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs751599203
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Oct 21, 2020 RCV000671826.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BCKDHB - - GRCh38
GRCh37
411 425

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 05, 2018)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: unknown
Counsyl
Accession: SCV000796849.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: unknown
Mendelics
Accession: SCV001137189.1
Submitted: (Oct 22, 2019)
Evidence details
Pathogenic
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
Invitae
Accession: SCV001580943.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change results in a premature translational stop signal in the BCKDHB gene (p.Arg387*). While this is not anticipated to result in nonsense mediated … (more)
Uncertain significance
(Jun 07, 2017)
no assertion criteria provided
Method: curation
Maple syrup urine disease
Allele origin: germline
SingHealth Duke-NUS Institute of Precision Medicine
Accession: SCV000853150.1
Submitted: (Apr 09, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Fourteen new mutations of <i>BCKDHA</i>, <i>BCKDHB</i> and <i>DBT</i> genes associated with maple syrup urine disease (MSUD) in Malaysian population. Ali EZ Molecular genetics and metabolism reports 2018 PMID: 30228974

Text-mined citations for rs751599203...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 13, 2021