NM_000709.4(BCKDHA):c.1168-2A>G AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 6, 2017
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:: RCV000497494.1

Allele description [Variation Report for NM_000709.4(BCKDHA):c.1168-2A>G]

NM_000709.4(BCKDHA):c.1168-2A>G

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.1168-2A>G

HGVS:

NC_000019.10:g.41424436A>G
NG_013004.1:g.31648A>G
NM_000709.4:c.1168-2A>GMANE SELECT
NM_001164783.2:c.1165-2A>G
NC_000019.9:g.41930341A>G
NM_000709.3:c.1168-2A>G

Links:

dbSNP: rs1555767285

NCBI 1000 Genomes Browser:

rs1555767285

Molecular consequence:

NM_000709.4:c.1168-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001164783.2:c.1165-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

PREDICTED: Solanum dulcamara dihydrolipoyllysine-residue succinyltransferase com...
PREDICTED: Solanum dulcamara dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex 2, mitochondrial-like (LOC129892254), mRNA
gi|2501281713|ref|XM_055967817.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000589623	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jun 6, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000589623

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jun 6, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000589623.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1168-2 A>G variant was identified in a patient with classic MSUD who was homozygous for c.1168-2 A>G (Gorzelany et al. 2009). The c.1168-2 A>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1168-2 A>G variant destroys the canonical splice acceptor site in intron 8 and is predicted to result in an in-frame deletion of a critical region. In summary, this variant is likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine