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GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 22, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000511629.3

Allele description [Variation Report for GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3]

GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3

Genes:
  • AGBL1:AGBL carboxypeptidase 1 [Gene - OMIM - HGNC]
  • ARPIN-AP3S2:ARPIN-AP3S2 readthrough [Gene - HGNC]
  • BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
  • CRTC3:CREB regulated transcription coactivator 3 [Gene - OMIM - HGNC]
  • DET1:DET1 partner of COP1 E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
  • FANCI:FA complementation group I [Gene - OMIM - HGNC]
  • FES:FES proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
  • GDPGP1:GDP-D-glucose phosphorylase 1 [Gene - OMIM - HGNC]
  • HDDC3:HD domain containing 3 [Gene - HGNC]
  • IQGAP1:IQ motif containing GTPase activating protein 1 [Gene - OMIM - HGNC]
  • RCCD1:RCC1 domain containing 1 [Gene - OMIM - HGNC]
  • RHCG:Rh family C glycoprotein [Gene - OMIM - HGNC]
  • ST8SIA2:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 [Gene - OMIM - HGNC]
  • TICRR:TOPBP1 interacting checkpoint and replication regulator [Gene - OMIM - HGNC]
  • VPS33B:VPS33B late endosome and lysosome associated [Gene - OMIM - HGNC]
  • WDR93:WD repeat domain 93 [Gene - OMIM - HGNC]
  • ABHD2:abhydrolase domain containing 2, acylglycerol lipase [Gene - OMIM - HGNC]
  • ARPIN:actin related protein 2/3 complex inhibitor [Gene - OMIM - HGNC]
  • AP3S2:adaptor related protein complex 3 subunit sigma 2 [Gene - OMIM - HGNC]
  • ACAN:aggrecan [Gene - OMIM - HGNC]
  • ANPEP:alanyl aminopeptidase, membrane [Gene - OMIM - HGNC]
  • AEN:apoptosis enhancing nuclease [Gene - OMIM - HGNC]
  • ARRDC4:arrestin domain containing 4 [Gene - OMIM - HGNC]
  • CIB1:calcium and integrin binding 1 [Gene - OMIM - HGNC]
  • CHD2:chromodomain helicase DNA binding protein 2 [Gene - OMIM - HGNC]
  • C15orf32:chromosome 15 putative open reading frame 32 [Gene - HGNC]
  • FAM174B:family with sequence similarity 174 member B [Gene - HGNC]
  • FURIN:furin, paired basic amino acid cleaving enzyme [Gene - OMIM - HGNC]
  • HAPLN3:hyaluronan and proteoglycan link protein 3 [Gene - HGNC]
  • ISG20:interferon stimulated exonuclease gene 20 [Gene - OMIM - HGNC]
  • IDH2:isocitrate dehydrogenase (NADP(+)) 2 [Gene - OMIM - HGNC]
  • KIF7:kinesin family member 7 [Gene - OMIM - HGNC]
  • LINC00928:long intergenic non-protein coding RNA 928 [Gene - HGNC]
  • MAN2A2:mannosidase alpha class 2A member 2 [Gene - OMIM - HGNC]
  • MESP1:mesoderm posterior bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • MESP2:mesoderm posterior bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • MIR9-3:microRNA 9-3 [Gene - OMIM - HGNC]
  • MFGE8:milk fat globule EGF and factor V/VIII domain containing [Gene - OMIM - HGNC]
  • MRPL46:mitochondrial ribosomal protein L46 [Gene - OMIM - HGNC]
  • MRPS11:mitochondrial ribosomal protein S11 [Gene - OMIM - HGNC]
  • MCTP2:multiple C2 and transmembrane domain containing 2 [Gene - OMIM - HGNC]
  • NGRN:neugrin, neurite outgrowth associated [Gene - OMIM - HGNC]
  • NTRK3:neurotrophic receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
  • NR2F2:nuclear receptor subfamily 2 group F member 2 [Gene - OMIM - HGNC]
  • PLIN1:perilipin 1 [Gene - OMIM - HGNC]
  • PEX11A:peroxisomal biogenesis factor 11 alpha [Gene - OMIM - HGNC]
  • PRC1:protein regulator of cytokinesis 1 [Gene - OMIM - HGNC]
  • RGMA:repulsive guidance molecule BMP co-receptor a [Gene - OMIM - HGNC]
  • RLBP1:retinaldehyde binding protein 1 [Gene - OMIM - HGNC]
  • SEMA4B:semaphorin 4B [Gene - OMIM - HGNC]
  • SLCO3A1:solute carrier organic anion transporter family member 3A1 [Gene - OMIM - HGNC]
  • SPATA8:spermatogenesis associated 8 [Gene - OMIM - HGNC]
  • SV2B:synaptic vesicle glycoprotein 2B [Gene - OMIM - HGNC]
  • UNC45A:unc-45 myosin chaperone A [Gene - OMIM - HGNC]
  • ZNF710:zinc finger protein 710 [Gene - HGNC]
  • ZNF774:zinc finger protein 774 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
15q25.3-26.3
Genomic location:
Chr15: 86899001 - 98734014 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3
HGVS:
    Links:
    dbVar: nssv14082441; dbVar: nsv3109793
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000586327ISCA site 1

    See additional submitters

    no assertion criteria provided
    Likely pathogenic
    (May 22, 2013)
    unknownclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    humannot providedyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

    Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

    PubMed [citation]
    PMID:
    20466091
    PMCID:
    PMC2869000

    Details of each submission

    From ISCA site 1, SCV000586327.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 7, 2024