U.S. flag

An official website of the United States government

NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) AND BCKDHA-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 30, 2024
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:
RCV003892844.2

Allele description [Variation Report for NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)]

NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)

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.647C>T (p.Ala216Val)
HGVS:
  • NC_000019.10:g.41422164C>T
  • NG_013004.1:g.29376C>T
  • NM_000709.4:c.647C>TMANE SELECT
  • NM_001164783.2:c.647C>T
  • NP_000700.1:p.Ala216Val
  • NP_001158255.1:p.Ala216Val
  • NC_000019.9:g.41928069C>T
  • NM_000709.3:c.647C>T
Protein change:
A216V
Links:
dbSNP: rs369448982
NCBI 1000 Genomes Browser:
rs369448982
Molecular consequence:
  • NM_000709.4:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164783.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004711572PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jan 30, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004711572.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BCKDHA c.647C>T variant is predicted to result in the amino acid substitution p.Ala216Val. This variant has been reported in patients with autosomal recessive maple syrup urine disease (Rodriguez-Pombo et al. 2006. PubMed ID: 16786533; Table S1, Strauss et al. 2020. PubMed ID: 31980395; Fang et al. 2021. PubMed ID: 34556729). This variant is reported in 0.013% of alleles in individuals of African descent in gnomAD. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024