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NM_016006.6(ABHD5):c.*2717dup

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000345266.2
Variation ID:
345266
Description:
1bp duplication
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NM_016006.6(ABHD5):c.*2717dup

Allele ID
294564
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3p21.33
Genomic location
3: 43721240-43721241 (GRCh38) GRCh38 UCSC
3: 43762732-43762733 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.43762741dup
NC_000003.12:g.43721249dup
NG_007090.5:g.35380dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:43721240:AAAAAAAAA:AAAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10618546
dbSNP: rs201589254
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000333227.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABHD5 - - GRCh38
GRCh37
140 172

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Chanarin-Dorfman Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000444412.2
Submitted: (Oct 18, 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 rs201589254...

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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 Sep 29, 2021