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NM_000709.4(BCKDHA):c.996-18C>T AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 29, 2016
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:
RCV000426920.1

Allele description [Variation Report for NM_000709.4(BCKDHA):c.996-18C>T]

NM_000709.4(BCKDHA):c.996-18C>T

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.996-18C>T
HGVS:
  • NC_000019.10:g.41422980C>T
  • NG_013004.1:g.30192C>T
  • NM_000709.4:c.996-18C>TMANE SELECT
  • NM_001164783.2:c.993-18C>T
  • NC_000019.9:g.41928885C>T
  • NM_000709.3:c.996-18C>T
Links:
dbSNP: rs201511678
NCBI 1000 Genomes Browser:
rs201511678
Molecular consequence:
  • NM_000709.4:c.996-18C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164783.2:c.993-18C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000516976GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Aug 29, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000516976.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024