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NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jun 5, 2020
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:
RCV000079236.20

Allele description [Variation Report for NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)]

NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)

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.347A>G (p.Asp116Gly)
HGVS:
  • NC_000019.10:g.41410981A>G
  • NG_013004.1:g.18193A>G
  • NM_000709.4:c.347A>GMANE SELECT
  • NM_001164783.2:c.347A>G
  • NP_000700.1:p.Asp116Gly
  • NP_000700.1:p.Asp116Gly
  • NP_001158255.1:p.Asp116Gly
  • NC_000019.9:g.41916886A>G
  • NM_000709.3:c.347A>G
Protein change:
D116G
Links:
dbSNP: rs398123498
NCBI 1000 Genomes Browser:
rs398123498
Molecular consequence:
  • NM_000709.4:c.347A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164783.2:c.347A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001770698GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jun 5, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111106.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001770698.1

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

Description

Reported previously in association with maple syrup urine disease (Alfadhel et al., 2016; Imtiaz et al., 2017; Monies et al., 2017); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29789446, 27629047, 28600779, 28417071, 31523617)

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000111106Eurofins Ntd Llc (ga)
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(EGL Classification Definitions 2015)		Uncertain significance
(Aug 8, 2012) 		germlineclinical testing

Citation Link

Last Updated: Nov 10, 2024