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GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 26, 2019
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:
RCV001259208.1

Allele description [Variation Report for GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4]

GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4

Genes:
  • BUB1B:BUB1 mitotic checkpoint serine/threonine kinase B [Gene - OMIM - HGNC]
  • DNAJC17:DnaJ heat shock protein family (Hsp40) member C17 [Gene - OMIM - HGNC]
  • GCHFR:GTP cyclohydrolase I feedback regulator [Gene - OMIM - HGNC]
  • PAK6-AS1:PAK6 antisense RNA 1 [Gene - HGNC]
  • RAD51:RAD51 recombinase [Gene - OMIM - HGNC]
  • RPUSD2:RNA pseudouridine synthase domain containing 2 [Gene - HGNC]
  • VPS18:VPS18 core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • ANKRD63:ankyrin repeat domain 63 [Gene - HGNC]
  • BAHD1:bromo adjacent homology domain containing 1 [Gene - OMIM - HGNC]
  • CHST14:carbohydrate sulfotransferase 14 [Gene - OMIM - HGNC]
  • C15orf62:chromosome 15 open reading frame 62 [Gene - HGNC]
  • CCDC32:coiled-coil domain containing 32 [Gene - OMIM - HGNC]
  • CCDC9B:coiled-coil domain containing 9B [Gene - HGNC]
  • DISP2:dispatched RND transporter family member 2 [Gene - OMIM - HGNC]
  • IVD:isovaleryl-CoA dehydrogenase [Gene - OMIM - HGNC]
  • KNSTRN:kinetochore localized astrin (SPAG5) binding protein [Gene - OMIM - HGNC]
  • KNL1:kinetochore scaffold 1 [Gene - OMIM - HGNC]
  • PAK6:p21 (RAC1) activated kinase 6 [Gene - OMIM - HGNC]
  • PLCB2:phospholipase C beta 2 [Gene - OMIM - HGNC]
  • PHGR1:proline, histidine and glycine rich 1 [Gene - HGNC]
  • PPP1R14D:protein phosphatase 1 regulatory inhibitor subunit 14D [Gene - OMIM - HGNC]
  • RHOV:ras homolog family member V [Gene - HGNC]
  • RMDN3:regulator of microtubule dynamics 3 [Gene - OMIM - HGNC]
  • SPINT1:serine peptidase inhibitor, Kunitz type 1 [Gene - OMIM - HGNC]
  • ZFYVE19:zinc finger FYVE-type containing 19 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
15q15.1
Genomic location:
Chr15: 40464942 - 41196807 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV001436177Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Uncertain significance
    (Jun 26, 2019)
    germlineclinical testing

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001436177.1

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

    Last Updated: Apr 23, 2022