NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val) AND Maple syrup urine disease type 1B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 13, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001280516.1

Allele description [Variation Report for NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val)]

NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val)

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.119C>T (p.Ala40Val)
HGVS:
  • NC_000006.12:g.80106812C>T
  • NG_009775.2:g.5186C>T
  • NM_000056.5:c.119C>T
  • NM_001318975.1:c.-15+129C>T
  • NM_183050.4:c.119C>TMANE SELECT
  • NP_000047.1:p.Ala40Val
  • NP_898871.1:p.Ala40Val
  • NC_000006.11:g.80816529C>T
  • NG_009775.1:g.5186C>T
  • NR_134945.2:n.142C>T
Protein change:
A40V
Links:
dbSNP: rs752892659
NCBI 1000 Genomes Browser:
rs752892659
Molecular consequence:
  • NM_001318975.1:c.-15+129C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000056.5:c.119C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183050.4:c.119C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134945.2:n.142C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Maple syrup urine disease type 1B (MSUD1B)
Synonyms:
MSUD type IB; MSUD type 3 (formerly); MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex
Identifiers:
MONDO: MONDO:0023692; MedGen: C2930990; OMIM: 620698

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001467700Natera, Inc.
no assertion criteria provided
Uncertain significance
(Apr 13, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001467700.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024