NM_000055.4(BCHE):c.1067C>A (p.Ala356Asp) AND Deficiency of butyrylcholinesterase

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 8, 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:: RCV000670632.1

Allele description [Variation Report for NM_000055.4(BCHE):c.1067C>A (p.Ala356Asp)]

NM_000055.4(BCHE):c.1067C>A (p.Ala356Asp)

Gene:

BCHE:butyrylcholinesterase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.1

Genomic location:

Preferred name:

NM_000055.4(BCHE):c.1067C>A (p.Ala356Asp)

HGVS:

NC_000003.12:g.165829967G>T
NG_009031.1:g.12499C>A
NM_000055.4:c.1067C>AMANE SELECT
NP_000046.1:p.Ala356Asp
NC_000003.11:g.165547755G>T
NM_000055.2:c.1067C>A
NR_137636.2:n.1185C>A

Protein change:

A356D

Links:

dbSNP: rs770337031

NCBI 1000 Genomes Browser:

rs770337031

Molecular consequence:

NM_000055.4:c.1067C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_137636.2:n.1185C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000795508	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 8, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000795508

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Nov 8, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia.

Gätke MR, Bundgaard JR, Viby-Mogensen J.

Pharmacogenet Genomics. 2007 Nov;17(11):995-9.

PubMed [citation]

PMID:: 18075469

Details of each submission

From Counsyl, SCV000795508.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jul 30, 2022

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