NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) AND BCHE, fluoride 2

Clinical significance:Pathogenic (Last evaluated: Oct 1, 1992)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000014116.25

Allele description [Variation Report for NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)]

NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)

Gene:
BCHE:butyrylcholinesterase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.1
Genomic location:
Preferred name:
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)
Other names:
BCHE*390V; CHE*390V
HGVS:
  • NC_000003.12:g.165829781C>A
  • NG_009031.1:g.12685G>T
  • NM_000055.3:c.1253G>T
  • NP_000046.1:p.Gly418Val
  • NC_000003.11:g.165547569C>A
  • NM_000055.2:c.1253G>T
Protein change:
G390V; GLY390VAL
Links:
OMIM: 177400.0004; dbSNP: 28933390
GMAF:
0.0020(A), 28933390
NCBI 1000 Genomes Browser:
rs28933390
Allele Frequency:
0.0036, GO-ESP
Molecular consequence:
  • NM_000055.3:c.1253G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
BCHE, fluoride 2
Synonyms:
BCHE, FLUORIDE-RESISTANT II
Identifiers:
MedGen: C4017552

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034364OMIMno assertion criteria providedPathogenic
(Oct 1, 1992)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Phenotypic and molecular biological analysis of human butyrylcholinesterase variants.

La Du BN, Bartels CF, Nogueira CP, Hajra A, Lightstone H, Van der Spek A, Lockridge O.

Clin Biochem. 1990 Oct;23(5):423-31.

PubMed [citation]
PMID:
2253336

Proposed nomenclature for human butyrylcholinesterase genetic variants identified by DNA sequencing.

La Du BN, Bartels CF, Nogueira CP, Arpagaus M, Lockridge O.

Cell Mol Neurobiol. 1991 Feb;11(1):79-89.

PubMed [citation]
PMID:
2013061
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000034364.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

See La Du et al. (1990, 1991) for information on the amino acid substitution. Nogueira et al. (1992) used DNA sequence analysis of the BCHE gene after amplification by polymerase chain reaction (PCR) to demonstrate a GGT-to-GTT transversion resulting in a gly390-to-val substitution in the fluoride-2 variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2016