NM_000055.4(BCHE):c.493del (p.Glu165fs) AND Deficiency of butyrylcholine esterase

Clinical significance:Likely pathogenic (Last evaluated: Mar 29, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410237.1

Allele description [Variation Report for NM_000055.4(BCHE):c.493del (p.Glu165fs)]

NM_000055.4(BCHE):c.493del (p.Glu165fs)

Gene:
BCHE:butyrylcholinesterase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q26.1
Genomic location:
Preferred name:
NM_000055.4(BCHE):c.493del (p.Glu165fs)
HGVS:
  • NC_000003.12:g.165830541del
  • NG_009031.1:g.11925del
  • NM_000055.4:c.493delMANE SELECT
  • NP_000046.1:p.Glu165fs
  • NC_000003.11:g.165548329del
  • NM_000055.2:c.493delG
  • NR_137636.2:n.611del
Protein change:
E165fs
Links:
dbSNP: rs1057516707
NCBI 1000 Genomes Browser:
rs1057516707
Molecular consequence:
  • NM_000055.4:c.493del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_137636.2:n.611del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Deficiency of butyrylcholine esterase (BCHED)
Synonyms:
Butyrylcholinesterase deficiency; BCHE deficiency; CHE1 deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015270; MedGen: C1283400; OMIM: 617936

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486090Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 29, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486090.1

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

Last Updated: Jul 7, 2021

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