GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 AND See cases

Clinical significance:Uncertain significance (Last evaluated: Jan 20, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000240526.1

Allele description [Variation Report for GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3]

GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3

Genes:
  • ARID3B:AT-rich interaction domain 3B [Gene - OMIM - HGNC]
  • CSK:C-terminal Src kinase [Gene - OMIM - HGNC]
  • CLK3:CDC like kinase 3 [Gene - OMIM - HGNC]
  • COMMD4:COMM domain containing 4 [Gene - OMIM - HGNC]
  • FBXO22:F-box protein 22 [Gene - OMIM - HGNC]
  • FBXO22-AS1:FBXO22 antisense RNA 1 [Gene - HGNC]
  • IMP3:IMP U3 small nucleolar ribonucleoprotein 3 [Gene - OMIM - HGNC]
  • ISL2:ISL LIM homeobox 2 [Gene - OMIM - HGNC]
  • SCAPER:S-phase cyclin A associated protein in the ER [Gene - OMIM - HGNC]
  • SIN3A:SIN3 transcription regulator family member A [Gene - OMIM - HGNC]
  • CSPG4:chondroitin sulfate proteoglycan 4 [Gene - OMIM - HGNC]
  • C15orf39:chromosome 15 open reading frame 39 [Gene - HGNC]
  • CCDC33:coiled-coil domain containing 33 [Gene - OMIM - HGNC]
  • CPLX3:complexin 3 [Gene - OMIM - HGNC]
  • CYP1A1:cytochrome P450 family 1 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP1A2:cytochrome P450 family 1 subfamily A member 2 [Gene - OMIM - HGNC]
  • CYP11A1:cytochrome P450 family 11 subfamily A member 1 [Gene - OMIM - HGNC]
  • COX5A:cytochrome c oxidase subunit 5A [Gene - OMIM - HGNC]
  • ETFA:electron transfer flavoprotein subunit alpha [Gene - OMIM - HGNC]
  • EDC3:enhancer of mRNA decapping 3 [Gene - OMIM - HGNC]
  • FAM219B:family with sequence similarity 219 member B [Gene - HGNC]
  • GOLGA6A:golgin A6 family member A [Gene - OMIM - HGNC]
  • GOLGA6C:golgin A6 family member C [Gene - HGNC]
  • GOLGA6D:golgin A6 family member D [Gene - HGNC]
  • HMG20A:high mobility group 20A [Gene - OMIM - HGNC]
  • ISLR2:immunoglobulin superfamily containing leucine rich repeat 2 [Gene - OMIM - HGNC]
  • ISLR:immunoglobulin superfamily containing leucine rich repeat [Gene - OMIM - HGNC]
  • LMAN1L:lectin, mannose binding 1 like [Gene - OMIM - HGNC]
  • LINGO1:leucine rich repeat and Ig domain containing 1 [Gene - OMIM - HGNC]
  • MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]
  • MAN2C1:mannosidase alpha class 2C member 1 [Gene - OMIM - HGNC]
  • NEIL1:nei like DNA glycosylase 1 [Gene - OMIM - HGNC]
  • NRG4:neuregulin 4 [Gene - OMIM - HGNC]
  • ODF3L1:outer dense fiber of sperm tails 3 like 1 [Gene - HGNC]
  • PPCDC:phosphopantothenoylcysteine decarboxylase [Gene - OMIM - HGNC]
  • PSTPIP1:proline-serine-threonine phosphatase interacting protein 1 [Gene - OMIM - HGNC]
  • PTPN9:protein tyrosine phosphatase non-receptor type 9 [Gene - OMIM - HGNC]
  • PEAK1:pseudopodium enriched atypical kinase 1 [Gene - OMIM - HGNC]
  • RCN2:reticulocalbin 2 [Gene - OMIM - HGNC]
  • RPP25:ribonuclease P and MRP subunit p25 [Gene - HGNC]
  • SCAMP2:secretory carrier membrane protein 2 [Gene - OMIM - HGNC]
  • SCAMP5:secretory carrier membrane protein 5 [Gene - OMIM - HGNC]
  • SEMA7A:semaphorin 7A (John Milton Hagen blood group) [Gene - OMIM - HGNC]
  • STRA6:signaling receptor and transporter of retinol STRA6 [Gene - OMIM - HGNC]
  • SNUPN:snurportin 1 [Gene - OMIM - HGNC]
  • SNX33:sorting nexin 33 [Gene - HGNC]
  • TSPAN3:tetraspanin 3 [Gene - OMIM - HGNC]
  • TMEM266:transmembrane protein 266 [Gene - HGNC]
  • UBE2Q2:ubiquitin conjugating enzyme E2 Q2 [Gene - OMIM - HGNC]
  • UBL7:ubiquitin like 7 [Gene - OMIM - HGNC]
  • ULK3:unc-51 like kinase 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
15q24.1-24.3
Genomic location:
Chr15: 74368270 - 78122737 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3
HGVS:

    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
    SCV000299073GeneDxcriteria provided, single submitter
    Uncertain significance
    (Jan 20, 2016)
    unknownclinical testing

    Citation Link

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From GeneDx, SCV000299073.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Oct 21, 2019

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