NM_000055.4(BCHE):c.1178G>T (p.Gly393Val) AND Deficiency of butyrylcholinesterase

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 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:: RCV000265515.5

Allele description [Variation Report for NM_000055.4(BCHE):c.1178G>T (p.Gly393Val)]

NM_000055.4(BCHE):c.1178G>T (p.Gly393Val)

Gene:

BCHE:butyrylcholinesterase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.1

Genomic location:

Preferred name:

NM_000055.4(BCHE):c.1178G>T (p.Gly393Val)

HGVS:

NC_000003.12:g.165829856C>A
NG_009031.1:g.12610G>T
NM_000055.4:c.1178G>TMANE SELECT
NP_000046.1:p.Gly393Val
NC_000003.11:g.165547644C>A
NM_000055.2:c.1178G>T
NR_137636.2:n.1296G>T

Protein change:

G393V

Links:

dbSNP: rs747438953

NCBI 1000 Genomes Browser:

rs747438953

Molecular consequence:

NM_000055.4:c.1178G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_137636.2:n.1296G>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000442038	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000442038

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000442038.2

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

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

Last Updated: Apr 9, 2023

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