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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:
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:
RCV003892844.1

Allele description

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:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004711572PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 30, 2024) 		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, SCV004711572.1

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

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: Sep 29, 2024