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GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000239839.2

Allele description [Variation Report for GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3]

GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3

Genes:
  • AKT2:AKT serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • CLC:Charcot-Leyden crystal galectin [Gene - OMIM - HGNC]
  • EID2:EP300 interacting inhibitor of differentiation 2 [Gene - OMIM - HGNC]
  • EID2B:EP300 interacting inhibitor of differentiation 2B [Gene - OMIM - HGNC]
  • FBXO17:F-box protein 17 [Gene - OMIM - HGNC]
  • FBXO27:F-box protein 27 [Gene - OMIM - HGNC]
  • FCGBP:Fc gamma binding protein [Gene - OMIM - HGNC]
  • MIA:MIA SH3 domain containing [Gene - OMIM - HGNC]
  • NCCRP1:NCCRP1, F-box associated domain containing [Gene - OMIM - HGNC]
  • NFKBIB:NFKB inhibitor beta [Gene - OMIM - HGNC]
  • NUMBL:NUMB like endocytic adaptor protein [Gene - OMIM - HGNC]
  • PAF1:PAF1 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]
  • RAB4B:RAB4B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RASGRP4:RAS guanyl releasing protein 4 [Gene - OMIM - HGNC]
  • RINL:Ras and Rab interactor like [Gene - HGNC]
  • SERTAD1:SERTA domain containing 1 [Gene - OMIM - HGNC]
  • SERTAD3:SERTA domain containing 3 [Gene - OMIM - HGNC]
  • SHKBP1:SH3KBP1 binding protein 1 [Gene - OMIM - HGNC]
  • SUPT5H:SPT5 homolog, DSIF elongation factor subunit [Gene - OMIM - HGNC]
  • WDR87:WD repeat domain 87 [Gene - OMIM - HGNC]
  • YIF1B:Yip1 interacting factor homolog B, membrane trafficking protein [Gene - OMIM - HGNC]
  • ZFP30:ZFP30 zinc finger protein [Gene - OMIM - HGNC]
  • ZFP36:ZFP36 ring finger protein [Gene - OMIM - HGNC]
  • ACP7:acid phosphatase 7, tartrate resistant (putative) [Gene - OMIM - HGNC]
  • ACTMAP:actin maturation protease [Gene - OMIM - HGNC]
  • ACTN4:actinin alpha 4 [Gene - OMIM - HGNC]
  • BLVRB:biliverdin reductase B [Gene - OMIM - HGNC]
  • CAPN12:calpain 12 [Gene - OMIM - HGNC]
  • CATSPERG:cation channel sperm associated auxiliary subunit gamma [Gene - OMIM - HGNC]
  • C19orf33:chromosome 19 open reading frame 33 [Gene - OMIM - HGNC]
  • C19orf47:chromosome 19 open reading frame 47 [Gene - HGNC]
  • COQ8B:coenzyme Q8B [Gene - OMIM - HGNC]
  • CCNP:cyclin P [Gene - HGNC]
  • CYP2A13:cytochrome P450 family 2 subfamily A member 13 [Gene - OMIM - HGNC]
  • CYP2A6:cytochrome P450 family 2 subfamily A member 6 [Gene - OMIM - HGNC]
  • CYP2A7:cytochrome P450 family 2 subfamily A member 7 [Gene - OMIM - HGNC]
  • CYP2B6:cytochrome P450 family 2 subfamily B member 6 [Gene - OMIM - HGNC]
  • CYP2F1:cytochrome P450 family 2 subfamily F member 1 [Gene - OMIM - HGNC]
  • DLL3:delta like canonical Notch ligand 3 [Gene - OMIM - HGNC]
  • DPF1:double PHD fingers 1 [Gene - OMIM - HGNC]
  • DYRK1B:dual specificity tyrosine phosphorylation regulated kinase 1B [Gene - OMIM - HGNC]
  • EGLN2:egl-9 family hypoxia inducible factor 2 [Gene - OMIM - HGNC]
  • ECH1:enoyl-CoA hydratase 1 [Gene - OMIM - HGNC]
  • EIF3K:eukaryotic translation initiation factor 3 subunit K [Gene - OMIM - HGNC]
  • FAM98C:family with sequence similarity 98 member C [Gene - HGNC]
  • FBL:fibrillarin [Gene - OMIM - HGNC]
  • LGALS13:galectin 13 [Gene - OMIM - HGNC]
  • LGALS14:galectin 14 [Gene - OMIM - HGNC]
  • LGALS16:galectin 16 [Gene - HGNC]
  • LGALS4:galectin 4 [Gene - OMIM - HGNC]
  • LGALS7:galectin 7 [Gene - OMIM - HGNC]
  • LGALS7B:galectin 7B [Gene - OMIM - HGNC]
  • GGN:gametogenetin [Gene - OMIM - HGNC]
  • GMFG:glia maturation factor gamma [Gene - OMIM - HGNC]
  • HNRNPL:heterogeneous nuclear ribonucleoprotein L [Gene - OMIM - HGNC]
  • HIPK4:homeodomain interacting protein kinase 4 [Gene - OMIM - HGNC]
  • ITPKC:inositol-trisphosphate 3-kinase C [Gene - OMIM - HGNC]
  • IFNL1:interferon lambda 1 [Gene - OMIM - HGNC]
  • IFNL2:interferon lambda 2 [Gene - OMIM - HGNC]
  • IFNL3:interferon lambda 3 [Gene - OMIM - HGNC]
  • LTBP4:latent transforming growth factor beta binding protein 4 [Gene - OMIM - HGNC]
  • LRFN1:leucine rich repeat and fibronectin type III domain containing 1 [Gene - OMIM - HGNC]
  • LEUTX:leucine twenty homeobox [Gene - OMIM - HGNC]
  • MED29:mediator complex subunit 29 [Gene - OMIM - HGNC]
  • MRPS12:mitochondrial ribosomal protein S12 [Gene - OMIM - HGNC]
  • MAP3K10:mitogen-activated protein kinase kinase kinase 10 [Gene - OMIM - HGNC]
  • MAP4K1:mitogen-activated protein kinase kinase kinase kinase 1 [Gene - OMIM - HGNC]
  • PAK4:p21 (RAC1) activated kinase 4 [Gene - OMIM - HGNC]
  • PRX:periaxin [Gene - OMIM - HGNC]
  • PLD3:phospholipase D family member 3 [Gene - OMIM - HGNC]
  • PLEKHG2:pleckstrin homology and RhoGEF domain containing G2 [Gene - OMIM - HGNC]
  • KCNK6:potassium two pore domain channel subfamily K member 6 [Gene - OMIM - HGNC]
  • PSMC4:proteasome 26S subunit, ATPase 4 [Gene - OMIM - HGNC]
  • PSMD8:proteasome 26S subunit, non-ATPase 8 [Gene - OMIM - HGNC]
  • PPP1R14A:protein phosphatase 1 regulatory inhibitor subunit 14A [Gene - OMIM - HGNC]
  • RPS16:ribosomal protein S16 [Gene - OMIM - HGNC]
  • RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
  • SELENOV:selenoprotein V [Gene - OMIM - HGNC]
  • SPINT2:serine peptidase inhibitor, Kunitz type 2 [Gene - OMIM - HGNC]
  • SARS2:seryl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • SIPA1L3:signal induced proliferation associated 1 like 3 [Gene - OMIM - HGNC]
  • SIRT2:sirtuin 2 [Gene - OMIM - HGNC]
  • SNRPA:small nuclear ribonucleoprotein polypeptide A [Gene - OMIM - HGNC]
  • SPTBN4:spectrin beta, non-erythrocytic 4 [Gene - OMIM - HGNC]
  • SPRED3:sprouty related EVH1 domain containing 3 [Gene - OMIM - HGNC]
  • SAMD4B:sterile alpha motif domain containing 4B [Gene - OMIM - HGNC]
  • SYCN:syncollin [Gene - OMIM - HGNC]
  • TTC9B:tetratricopeptide repeat domain 9B [Gene - HGNC]
  • TIMM50:translocase of inner mitochondrial membrane 50 [Gene - OMIM - HGNC]
  • LOC100507646:uncharacterized LOC100507646 [Gene]
  • ZNF383:zinc finger protein 383 [Gene - OMIM - HGNC]
  • ZNF420:zinc finger protein 420 [Gene - OMIM - HGNC]
  • ZNF527:zinc finger protein 527 [Gene - HGNC]
  • ZNF540:zinc finger protein 540 [Gene - OMIM - HGNC]
  • ZNF546:zinc finger protein 546 [Gene - HGNC]
  • ZNF569:zinc finger protein 569 [Gene - OMIM - HGNC]
  • ZNF570:zinc finger protein 570 [Gene - HGNC]
  • ZNF571:zinc finger protein 571 [Gene - HGNC]
  • ZNF573:zinc finger protein 573 [Gene - HGNC]
  • ZNF585A:zinc finger protein 585A [Gene - HGNC]
  • ZNF585B:zinc finger protein 585B [Gene - HGNC]
  • ZNF607:zinc finger protein 607 [Gene - HGNC]
  • ZNF780A:zinc finger protein 780A [Gene - HGNC]
  • ZNF780B:zinc finger protein 780B [Gene - HGNC]
  • ZNF781:zinc finger protein 781 [Gene - HGNC]
  • ZNF793:zinc finger protein 793 [Gene - HGNC]
  • ZNF875:zinc finger protein 875 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19q13.12-13.2
Genomic location:
Chr19: 37582250 - 41630908 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)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
    SCV000298392GeneDx
    criteria provided, single submitter

    (GeneDx Variant Classification (06012015))
    Pathogenic
    (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, SCV000298392.3

    #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: Mar 26, 2023