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NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 3, 2015)
Last evaluated:
Oct 22, 2015
Accession:
VCV000218346.1
Variation ID:
218346
Description:
3bp microsatellite
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NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del)

Allele ID
215049
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
3q22.1
Genomic location
3: 132349986-132349988 (GRCh38) GRCh38 UCSC
3: 132068830-132068832 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.132068831CAT[1]
NC_000003.12:g.132349987CAT[1]
NG_047032.1:g.37621CAT[1]
... more HGVS
Protein change
I251del, I284del
Other names
-
Canonical SPDI
NC_000003.12:132349985:TCATCAT:TCAT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA248838
dbSNP: rs864309497
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 no assertion criteria provided Oct 22, 2015 RCV000202571.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACP3 - - GRCh38
GRCh37
5 18

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 22, 2015)
no assertion criteria provided
Method: research
Mediastinal germ cell tumor
Acute megakaryoblastic leukemia
Allele origin: somatic
McDonnell Genome Institute,Washington University in St. Louis
Accession: SCV000257339.1
Submitted: (Nov 03, 2015)
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 rs864309497...

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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 Oct 08, 2021