NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 25, 2013
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:: RCV000790710.4

Allele description [Variation Report for NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)]

NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)

Gene:

BCKDHB:branched chain keto acid dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)

HGVS:

NC_000006.12:g.80106726_80106727del
NG_009775.2:g.5100_5101del
NM_000056.5:c.33_34del
NM_001318975.1:c.-15+43_-15+44del
NM_183050.4:c.33_34delMANE SELECT
NP_000047.1:p.Leu12fs
NP_898871.1:p.Leu12fs
NC_000006.11:g.80816443_80816444del
NM_183050.2:c.33_34del
NM_183050.2:c.33_34delAC
NM_183050.3:c.33_34del
NR_134945.2:n.56_57del

Protein change:

L12fs

Links:

dbSNP: rs398124572

NCBI 1000 Genomes Browser:

rs398124572

Molecular consequence:

NM_000056.5:c.33_34del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_183050.4:c.33_34del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318975.1:c.-15+43_-15+44del - intron variant - [Sequence Ontology: SO:0001627]
NR_134945.2:n.56_57del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000224711	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Nov 25, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000224711

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Nov 25, 2013)

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	unknown	5	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224711.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		5	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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