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NM_183050.4(BCKDHB):c.560G>A (p.Gly187Asp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 13, 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:
RCV000493769.1

Allele description [Variation Report for NM_183050.4(BCKDHB):c.560G>A (p.Gly187Asp)]

NM_183050.4(BCKDHB):c.560G>A (p.Gly187Asp)

Gene:
BCKDHB:branched chain keto acid dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q14.1
Genomic location:
Preferred name:
NM_183050.4(BCKDHB):c.560G>A (p.Gly187Asp)
HGVS:
  • NC_000006.12:g.80168957G>A
  • NG_009775.2:g.67331G>A
  • NM_000056.5:c.560G>A
  • NM_001318975.1:c.350G>A
  • NM_183050.4:c.560G>AMANE SELECT
  • NP_000047.1:p.Gly187Asp
  • NP_001305904.1:p.Gly117Asp
  • NP_898871.1:p.Gly187Asp
  • NC_000006.11:g.80878674G>A
  • NM_183050.2:c.560G>A
  • NR_134945.2:n.583G>A
Protein change:
G117D
Links:
dbSNP: rs1131691399
NCBI 1000 Genomes Browser:
rs1131691399
Molecular consequence:
  • NM_000056.5:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318975.1:c.350G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183050.4:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134945.2:n.583G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000582046GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Apr 13, 2017) 		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, SCV000582046.4

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

Description

The G187D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G187D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G187D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret G187D to be a likely pathogenic variant.

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

Last Updated: Apr 23, 2022