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NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 21, 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:
RCV002513854.9

Allele description [Variation Report for NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)]

NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)

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.508C>T (p.Arg170Cys)
HGVS:
  • NC_000006.12:g.80168905C>T
  • NG_009775.2:g.67279C>T
  • NM_000056.5:c.508C>T
  • NM_001318975.1:c.298C>T
  • NM_183050.4:c.508C>TMANE SELECT
  • NP_000047.1:p.Arg170Cys
  • NP_001305904.1:p.Arg100Cys
  • NP_898871.1:p.Arg170Cys
  • NP_898871.1:p.Arg170Cys
  • NC_000006.11:g.80878622C>T
  • NM_183050.2:c.508C>T
  • NM_183050.3:c.508C>T
  • NR_134945.2:n.531C>T
Protein change:
R100C
Links:
dbSNP: rs398124581
NCBI 1000 Genomes Browser:
rs398124581
Molecular consequence:
  • NM_000056.5:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318975.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183050.4:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134945.2:n.531C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003601881Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 21, 2022) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Maple Syrup Urine Disease.

Strauss KA, Puffenberger EG, Carson VJ.

2006 Jan 30 [updated 2020 Apr 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301495

Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).

Wang YP, Qi ML, Li TT, Zhao YJ.

Gene. 2012 Apr 25;498(1):112-5. doi: 10.1016/j.gene.2012.01.082. Epub 2012 Feb 3.

PubMed [citation]
PMID:
22326532
See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV003601881.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

The c.508C>T (p.R170C) alteration is located in exon 5 (coding exon 5) of the BCKDHB gene. This alteration results from a C to T substitution at nucleotide position 508, causing the arginine (R) at amino acid position 170 to be replaced by a cysteine (C). Based on data from gnomAD, the T allele has an overall frequency of 0.001% (2/251436) total alleles studied. The highest observed frequency was 0.002% (2/113724) of European (non-Finnish) alleles. This variant has been identified in the homozygous and compound heterozygous state in several individuals with maple syrup urine disease (Li, 2015; Miryounesi, 2015; Abiri, 2017; Li, 2018; Fang, 2021; Martín-Rivada, 2022). In addition, multiple different variants at this amino acid position have been detected in patients with maple syrup urine disease including p.R170H (c.509G>A), p.R170G (c.508C>G), and p.R170P (c.509G>C)(Strauss, 2020; O'Reilly, 2021; Wang, 2012; ClinVar database). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Oct 20, 2024