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NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 23, 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:
RCV000790691.4

Allele description [Variation Report for NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)]

NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)

Gene:
BCKDHB:branched chain keto acid dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6q14.1
Genomic location:
Preferred name:
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
HGVS:
  • NC_000006.12:g.80168990AG[1]
  • NG_009775.2:g.67364AG[1]
  • NM_000056.5:c.595_596del
  • NM_001318975.1:c.385_386del
  • NM_183050.4:c.595_596delMANE SELECT
  • NP_000047.1:p.Ser199_Pro200insTer
  • NP_001305904.1:p.Ser129_Pro130insTer
  • NP_898871.1:p.Ser199_Pro200insTer
  • NC_000006.11:g.80878707AG[1]
  • NC_000006.11:g.80878707_80878708del
  • NM_183050.2:c.595_596del
  • NM_183050.2:c.595_596delAG
  • NM_183050.3:c.595_596del
  • NM_183050.4:c.595_596delAGMANE SELECT
  • NR_134945.2:n.616AG[1]
Links:
dbSNP: rs398124587
NCBI 1000 Genomes Browser:
rs398124587
Molecular consequence:
  • NM_000056.5:c.595_596del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318975.1:c.385_386del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_183050.4:c.595_596del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_134945.2:n.616AG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

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
SCV000231231Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions)		Pathogenic
(Aug 23, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000231231.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Sep 29, 2024