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NM_000055.4(BCHE):c.493del (p.Glu165fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Mar 29, 2016
Accession:
VCV000370709.1
Variation ID:
370709
Description:
1bp deletion
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NM_000055.4(BCHE):c.493del (p.Glu165fs)

Allele ID
357320
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3q26.1
Genomic location
3: 165830541 (GRCh38) GRCh38 UCSC
3: 165548329 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.165548329del
NC_000003.12:g.165830541del
NM_000055.4:c.493del MANE Select NP_000046.1:p.Glu165fs frameshift
... more HGVS
Protein change
E165fs
Other names
-
Canonical SPDI
NC_000003.12:165830540:C:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16040925
dbSNP: rs1057516707
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 29, 2016 RCV000410237.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BCHE - - GRCh38
GRCh37
127 149

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 29, 2016)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: unknown
Counsyl
Accession: SCV000486090.1
Submitted: (Nov 23, 2016)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1057516707...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021