NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp) AND Deficiency of butyrylcholinesterase

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 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:: RCV000664821.1

Allele description [Variation Report for NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp)]

NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp)

Gene:

BCHE:butyrylcholinesterase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.1

Genomic location:

Preferred name:

NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp)

HGVS:

NC_000003.12:g.165829542G>A
NG_009031.1:g.12924C>T
NM_000055.4:c.1492C>TMANE SELECT
NP_000046.1:p.Arg498Trp
NC_000003.11:g.165547330G>A
NM_000055.2:c.1492C>T
NR_137636.2:n.1610C>T

Protein change:

R498W

Links:

dbSNP: rs115017300

NCBI 1000 Genomes Browser:

rs115017300

Molecular consequence:

NM_000055.4:c.1492C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_137636.2:n.1610C>T - 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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Laccaria bicolor S238N-H82 uncharacterized protein (LACBIDRAFT_395470), partial ...
Laccaria bicolor S238N-H82 uncharacterized protein (LACBIDRAFT_395470), partial mRNA
gi|170114190|ref|XM_001888258.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000788839	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 23, 2016)	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

SCV000788839

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Dec 23, 2016)

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

Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population.

Mikami LR, Wieseler S, Souza RL, Schopfer LM, Nachon F, Lockridge O, Chautard-Freire-Maia EA.

Pharmacogenet Genomics. 2008 Mar;18(3):213-8. doi: 10.1097/FPC.0b013e3282f5107e.

PubMed [citation]

PMID:: 18300943

Details of each submission

From Counsyl, SCV000788839.1

#	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: Dec 24, 2023

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