Click here to see the new Variation Report design!

NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)

Variation ID: Help
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)

Allele ID:
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
  • Chr3: 165830741 (on Assembly GRCh38)
  • Chr3: 165548529 (on Assembly GRCh37)
Other names:
  • BCHE*70G
  • A-Variant
Protein change:
D70G, D98G
  • NG_009031.1:g.11725A>G
  • NM_000055.3:c.293A>G
  • NP_000046.1:p.Asp98Gly
  • NC_000003.12:g.165830741T>C (GRCh38)
  • NR_137635.1:n.159+6573A>G
  • NR_137636.1:n.460A>G
  • NC_000003.11:g.165548529T>C (GRCh37)
  • NM_000055.2:c.293A>G
  • P06276:p.Asp98Gly
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000055.3:c.293A>G: missense variant SO:0001583
  • NR_137635.1:n.159+6573A>G: intron variant SO:0001627
  • NR_137636.1:n.460A>G: non-coding transcript variant SO:0001619
Allele frequency:
  • GO-ESP 0.01392 (C)
  • GMAF 0.00600 (C)
  • ExAC 0.01207 (C)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details


Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000442044.2
Likely pathogenic
(Sep 30, 2015)
criteria provided, single submitter
clinical testingunknownCounsylSCV000678076.1
(Feb 1, 1991)
no assertion criteria providedliterature onlygermlineOMIMSCV000034350.3
(Feb 1, 1991)
no assertion criteria providedliterature only
  • BCHE, dibucaine-resistant i
not providedno assertion providedphenotyping onlyunknown
    GenomeConnect, ClinGenSCV000607344.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, unknownnot providednot provided
    Counsylnot providednot providedunknownnot providednot providednot provided
    GenomeConnect, ClinGennot providednot providedunknownnot providednot providednot providedGenomeConnect assertions are r…Full description
    Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe c.293A>G (p.Asp98Gly) vari…Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Feb 26, 2018