NM_000055.4(BCHE):c.1372dup (p.Trp458fs) AND Deficiency of butyrylcholinesterase

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 5, 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:: RCV000664778.1

Allele description [Variation Report for NM_000055.4(BCHE):c.1372dup (p.Trp458fs)]

NM_000055.4(BCHE):c.1372dup (p.Trp458fs)

Gene:

BCHE:butyrylcholinesterase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q26.1

Genomic location:

Preferred name:

NM_000055.4(BCHE):c.1372dup (p.Trp458fs)

HGVS:

NC_000003.12:g.165829662dup
NG_009031.1:g.12804dup
NM_000055.4:c.1372dupMANE SELECT
NP_000046.1:p.Trp458fs
NC_000003.11:g.165547450dup
NM_000055.2:c.1372dupT
NR_137636.2:n.1490dup

Protein change:

W458fs

Links:

dbSNP: rs1553778044

NCBI 1000 Genomes Browser:

rs1553778044

Molecular consequence:

NM_000055.4:c.1372dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_137636.2:n.1490dup - 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

Recent activity

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ras association domain-containing protein 3 isoform 2 [Mus musculus]
ras association domain-containing protein 3 isoform 2 [Mus musculus]
gi|2465536469|ref|NP_001405870.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000788790	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jan 5, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000788790

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jan 5, 2017)

unknown

clinical testing

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

Details of each submission

From Counsyl, SCV000788790.1

#	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	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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