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NM_016006.6(ABHD5):c.*2492C>T

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 12, 2018
Accession:
VCV000902907.1
Variation ID:
902907
Description:
single nucleotide variant
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NM_016006.6(ABHD5):c.*2492C>T

Allele ID
888955
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.33
Genomic location
3: 43721024 (GRCh38) GRCh38 UCSC
3: 43762516 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.43762516C>T
NC_000003.12:g.43721024C>T
NM_016006.6:c.*2492C>T MANE Select 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:43721023:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jan 12, 2018 RCV001149807.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Triglyceride storage disease with ichthyosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001310802.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

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.

Record last updated May 13, 2021