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GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 18, 2017
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:
RCV000848418.2

Allele description [Variation Report for GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3]

GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3

Genes:
  • OGFOD3:2-oxoglutarate and iron dependent oxygenase domain containing 3 [Gene - HGNC]
  • ARL16:ADP ribosylation factor like GTPase 16 [Gene - OMIM - HGNC]
  • ASPSCR1:ASPSCR1 tether for SLC2A4, UBX domain containing [Gene - OMIM - HGNC]
  • ALYREF:Aly/REF export factor [Gene - OMIM - HGNC]
  • BAHCC1:BAH domain and coiled-coil containing 1 [Gene - OMIM - HGNC]
  • BAIAP2:BAR/IMD domain containing adaptor protein 2 [Gene - OMIM - HGNC]
  • CD7:CD7 molecule [Gene - OMIM - HGNC]
  • FAAP100:FA core complex associated protein 100 [Gene - OMIM - HGNC]
  • GPS1:G protein pathway suppressor 1 [Gene - OMIM - HGNC]
  • HEXD-IT1:HEXD intronic transcript 1 [Gene - HGNC]
  • MAFG:MAF bZIP transcription factor G [Gene - OMIM - HGNC]
  • MCRIP1:MAPK regulated corepressor interacting protein 1 [Gene - OMIM - HGNC]
  • NDUFAF8:NADH:ubiquinone oxidoreductase complex assembly factor 8 [Gene - OMIM - HGNC]
  • NPLOC4:NPL4 homolog, ubiquitin recognition factor [Gene - OMIM - HGNC]
  • RAB40B:RAB40B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RFNG:RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • RAC3:Rac family small GTPase 3 [Gene - OMIM - HGNC]
  • ARHGDIA:Rho GDP dissociation inhibitor alpha [Gene - OMIM - HGNC]
  • TEPSIN:TEPSIN adaptor related protein complex 4 accessory protein [Gene - HGNC]
  • TMEM105:TMEM105 long non-coding RNA [Gene - HGNC]
  • B3GNTL1:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 [Gene - OMIM - HGNC]
  • WDR45B:WD repeat domain 45B [Gene - OMIM - HGNC]
  • ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
  • ANAPC11:anaphase promoting complex subunit 11 [Gene - OMIM - HGNC]
  • AATK:apoptosis associated tyrosine kinase [Gene - OMIM - HGNC]
  • CSNK1D:casein kinase 1 delta [Gene - OMIM - HGNC]
  • CENPX:centromere protein X [Gene - OMIM - HGNC]
  • CEP131:centrosomal protein 131 [Gene - OMIM - HGNC]
  • CHMP6:charged multivesicular body protein 6 [Gene - OMIM - HGNC]
  • CCDC137:coiled-coil domain containing 137 [Gene - OMIM - HGNC]
  • CCDC57:coiled-coil domain containing 57 [Gene - HGNC]
  • CYBC1:cytochrome b-245 chaperone 1 [Gene - OMIM - HGNC]
  • DCXR:dicarbonyl and L-xylulose reductase [Gene - OMIM - HGNC]
  • DUS1L:dihydrouridine synthase 1 like [Gene - HGNC]
  • FSCN2:fascin actin-bundling protein 2, retinal [Gene - OMIM - HGNC]
  • FASN:fatty acid synthase [Gene - OMIM - HGNC]
  • FOXK2:forkhead box K2 [Gene - OMIM - HGNC]
  • FN3KRP:fructosamine 3 kinase related protein [Gene - OMIM - HGNC]
  • FN3K:fructosamine 3 kinase [Gene - OMIM - HGNC]
  • GCGR:glucagon receptor [Gene - OMIM - HGNC]
  • HGS:hepatocyte growth factor-regulated tyrosine kinase substrate [Gene - OMIM - HGNC]
  • HEXD:hexosaminidase D [Gene - OMIM - HGNC]
  • LRRC45:leucine rich repeat containing 45 [Gene - HGNC]
  • METRNL:meteorin like, glial cell differentiation regulator [Gene - OMIM - HGNC]
  • MIR338:microRNA 338 [Gene - OMIM - HGNC]
  • MRPL12:mitochondrial ribosomal protein L12 [Gene - OMIM - HGNC]
  • MYADML2:myeloid associated differentiation marker like 2 [Gene - HGNC]
  • NPB:neuropeptide B [Gene - OMIM - HGNC]
  • NOTUM:notum, palmitoleoyl-protein carboxylesterase [Gene - OMIM - HGNC]
  • NARF:nuclear prelamin A recognition factor [Gene - OMIM - HGNC]
  • OXLD1:oxidoreductase like domain containing 1 [Gene - HGNC]
  • PCYT2:phosphate cytidylyltransferase 2, ethanolamine [Gene - OMIM - HGNC]
  • PDE6G:phosphodiesterase 6G [Gene - OMIM - HGNC]
  • P4HB:prolyl 4-hydroxylase subunit beta [Gene - OMIM - HGNC]
  • PPP1R27:protein phosphatase 1 regulatory subunit 27 [Gene - HGNC]
  • PYCR1:pyrroline-5-carboxylate reductase 1 [Gene - OMIM - HGNC]
  • RPTOR:regulatory associated protein of MTOR complex 1 [Gene - OMIM - HGNC]
  • SECTM1:secreted and transmembrane 1 [Gene - OMIM - HGNC]
  • SIRT7:sirtuin 7 [Gene - OMIM - HGNC]
  • SLC16A3:solute carrier family 16 member 3 [Gene - OMIM - HGNC]
  • SLC25A10:solute carrier family 25 member 10 [Gene - OMIM - HGNC]
  • SLC38A10:solute carrier family 38 member 10 [Gene - OMIM - HGNC]
  • TEX19:testis expressed 19 [Gene - OMIM - HGNC]
  • TSPAN10:tetraspanin 10 [Gene - HGNC]
  • TBCD:tubulin folding cofactor D [Gene - OMIM - HGNC]
  • UTS2R:urotensin 2 receptor [Gene - OMIM - HGNC]
  • ZNF750:zinc finger protein 750 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q25.3
Genomic location:
Chr17: 78608912 - 81041938 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3
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
    SCV000990560Bionano Laboratories
    no assertion criteria provided
    Pathogenic
    (Sep 18, 2017)
    unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000990560.1

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

    Last Updated: Dec 11, 2022