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

Clinical significance:Uncertain significance (Last evaluated: Oct 22, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000202571.1

Allele description [Variation Report for NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del)]

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

Gene:
ACP3:acid phosphatase 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3q22.1
Genomic location:
Preferred name:
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del)
HGVS:
  • NC_000003.12:g.132349987CAT[1]
  • NG_047032.1:g.37621CAT[1]
  • NM_001099.5:c.849CAT[1]MANE SELECT
  • NM_001134194.2:c.849CAT[1]
  • NM_001292037.2:c.750CAT[1]
  • NP_001090.2:p.Ile284del
  • NP_001127666.1:p.Ile284del
  • NP_001278966.1:p.Ile251del
  • NC_000003.11:g.132068830_132068832delTCA
  • NC_000003.11:g.132068831CAT[1]
Protein change:
I251del
Links:
dbSNP: rs864309497
NCBI 1000 Genomes Browser:
rs864309497
Molecular consequence:
  • NM_001099.5:c.849CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001134194.2:c.849CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001292037.2:c.750CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Acute megakaryoblastic leukemia
Identifiers:
MONDO: MONDO:0018872; MeSH: D007947; MedGen: C0023462
Name:
Mediastinal germ cell tumor
Identifiers:
MONDO: MONDO:0021067; MedGen: C1334655

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000257339McDonnell Genome Institute,Washington University in St. Louisno assertion criteria providedUncertain significance
(Oct 22, 2015)
somaticresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianssomaticyes1not providednot provided1not providedresearch

Details of each submission

From McDonnell Genome Institute,Washington University in St. Louis, SCV000257339.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasians1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyes1AML and germ cell tumornot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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