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GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 6, 2018
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:
RCV000754760.2

Allele description [Variation Report for GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4]

GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4

Genes:
  • ATP10A:ATPase phospholipid transporting 10A (putative) [Gene - OMIM - HGNC]
  • HERC2:HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • MAGEL2:MAGE family member L2 [Gene - OMIM - HGNC]
  • NIPA1:NIPA magnesium transporter 1 [Gene - OMIM - HGNC]
  • NIPA2:NIPA magnesium transporter 2 [Gene - OMIM - HGNC]
  • OCA2:OCA2 melanosomal transmembrane protein [Gene - OMIM - HGNC]
  • POTEB2:POTE ankyrin domain family member B2 [Gene - HGNC]
  • POTEB:POTE ankyrin domain family member B [Gene - OMIM - HGNC]
  • PWAR1:Prader Willi/Angelman region RNA 1 [Gene - OMIM - HGNC]
  • PWAR4:Prader Willi/Angelman region RNA 4 [Gene - HGNC]
  • PWAR5:Prader Willi/Angelman region RNA 5 [Gene - OMIM - HGNC]
  • PWAR6:Prader Willi/Angelman region RNA 6 [Gene - HGNC]
  • PWARSN:Prader Willi/Angelman region RNA, SNRPN neighbor [Gene - HGNC]
  • PWRN1:Prader-Willi region non-protein coding RNA 1 [Gene - OMIM - HGNC]
  • PWRN2:Prader-Willi region non-protein coding RNA 2 [Gene - OMIM - HGNC]
  • SNURF:SNRPN upstream open reading frame [Gene - HGNC]
  • CYFIP1:cytoplasmic FMR1 interacting protein 1 [Gene - OMIM - HGNC]
  • GABRA5:gamma-aminobutyric acid type A receptor subunit alpha5 [Gene - OMIM - HGNC]
  • GABRB3:gamma-aminobutyric acid type A receptor subunit beta3 [Gene - OMIM - HGNC]
  • GABRG3:gamma-aminobutyric acid type A receptor subunit gamma3 [Gene - OMIM - HGNC]
  • GOLGA6L1:golgin A6 family like 1 [Gene - HGNC]
  • GOLGA6L2:golgin A6 family like 2 [Gene - HGNC]
  • GOLGA6L6:golgin A6 family like 6 [Gene - HGNC]
  • GOLGA8M:golgin A8 family member M [Gene - HGNC]
  • IPW:imprinted in Prader-Willi syndrome [Gene - OMIM - HGNC]
  • MKRN3:makorin ring finger protein 3 [Gene - OMIM - HGNC]
  • NDN:necdin, MAGE family member [Gene - OMIM - HGNC]
  • NPAP1:nuclear pore associated protein 1 [Gene - OMIM - HGNC]
  • OR4M2:olfactory receptor family 4 subfamily M member 2 [Gene - HGNC]
  • OR4N4:olfactory receptor family 4 subfamily N member 4 [Gene - HGNC]
  • SNRPN:small nuclear ribonucleoprotein polypeptide N [Gene - OMIM - HGNC]
  • SNORD115-1:small nucleolar RNA, C/D box 115-1 [Gene - OMIM - HGNC]
  • SNORD116-1:small nucleolar RNA, C/D box 116-1 [Gene - OMIM - HGNC]
  • TUBGCP5:tubulin gamma complex associated protein 5 [Gene - OMIM - HGNC]
  • UBE3A:ubiquitin protein ligase E3A [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
15q11.1-13.1
Genomic location:
Chr15: 20102540 - 29031690 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000882652Institute of Human Genetics, University of Goettingen
    no assertion criteria provided
    		Pathogenic
    (Sep 6, 2018)     		unknownclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes11not provided1noclinical testing

    Details of each submission

    From Institute of Human Genetics, University of Goettingen, SCV000882652.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednoclinical testingnot provided

    Description

    triplication of 15q11.1q13.1 is described as inv dup(15) syndrome with early hypotonia, developmental delay, epilepsy and autistic behaviour (Chen et al., Taiwan J Obstet Gynecol. 2016 and Battaglia et al., Orphanet J Rare Dis. 2008)

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyes1not providednot provided1not provided1not provided

    Last Updated: Mar 26, 2023