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GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 17, 2020
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:
RCV001258545.1

Allele description [Variation Report for GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3]

GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3

Genes:
  • HTR2A:5-hydroxytryptamine receptor 2A [Gene - OMIM - HGNC]
  • ARL11:ADP ribosylation factor like GTPase 11 [Gene - OMIM - HGNC]
  • ALG11:ALG11 alpha-1,2-mannosyltransferase [Gene - OMIM - HGNC]
  • ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
  • EBPL:EBP like [Gene - OMIM - HGNC]
  • GPALPP1:GPALPP motifs containing 1 [Gene - HGNC]
  • NEK5:NIMA related kinase 5 [Gene - OMIM - HGNC]
  • PHF11:PHD finger protein 11 [Gene - OMIM - HGNC]
  • RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
  • RCBTB1:RCC1 and BTB domain containing protein 1 [Gene - OMIM - HGNC]
  • RCBTB2:RCC1 and BTB domain containing protein 2 [Gene - OMIM - HGNC]
  • SETDB2:SET domain bifurcated histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • SLC25A30-AS1:SLC25A30 antisense RNA 1 [Gene - HGNC]
  • SPRYD7:SPRY domain containing 7 [Gene - OMIM - HGNC]
  • UTP14C:UTP14C small subunit processome component [Gene - OMIM - HGNC]
  • WDFY2:WD repeat and FYVE domain containing 2 [Gene - OMIM - HGNC]
  • CAB39L:calcium binding protein 39 like [Gene - OMIM - HGNC]
  • CPB2:carboxypeptidase B2 [Gene - OMIM - HGNC]
  • CBY2:chibby family member 2 [Gene - OMIM - HGNC]
  • CCDC70:coiled-coil domain containing 70 [Gene - HGNC]
  • COG3:component of oligomeric golgi complex 3 [Gene - OMIM - HGNC]
  • CYSLTR2:cysteinyl leukotriene receptor 2 [Gene - OMIM - HGNC]
  • CDADC1:cytidine and dCMP deaminase domain containing 1 [Gene - OMIM - HGNC]
  • DHRS12:dehydrogenase/reductase 12 [Gene - OMIM - HGNC]
  • DLEU1:deleted in lymphocytic leukemia 1 [Gene - OMIM - HGNC]
  • DLEU2:deleted in lymphocytic leukemia 2 [Gene - OMIM - HGNC]
  • DLEU7:deleted in lymphocytic leukemia 7 [Gene - OMIM - HGNC]
  • ESD:esterase D [Gene - OMIM - HGNC]
  • FAM124A:family with sequence similarity 124 member A [Gene - HGNC]
  • FNDC3A:fibronectin type III domain containing 3A [Gene - OMIM - HGNC]
  • GTF2F2:general transcription factor IIF subunit 2 [Gene - OMIM - HGNC]
  • ERICH6B:glutamate rich 6B [Gene - HGNC]
  • ITM2B:integral membrane protein 2B [Gene - OMIM - HGNC]
  • INTS6:integrator complex subunit 6 [Gene - OMIM - HGNC]
  • KPNA3:karyopherin subunit alpha 3 [Gene - OMIM - HGNC]
  • LRRC63:leucine rich repeat containing 63 [Gene - HGNC]
  • LRCH1:leucine rich repeats and calponin homology domain containing 1 [Gene - OMIM - HGNC]
  • LCP1:lymphocyte cytosolic protein 1 [Gene - OMIM - HGNC]
  • LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]
  • MED4:mediator complex subunit 4 [Gene - OMIM - HGNC]
  • MIR15A:microRNA 15a [Gene - OMIM - HGNC]
  • MIR16-1:microRNA 16-1 [Gene - OMIM - HGNC]
  • MLNR:motilin receptor [Gene - OMIM - HGNC]
  • NUFIP1:nuclear FMR1 interacting protein 1 [Gene - OMIM - HGNC]
  • NUDT15:nudix hydrolase 15 [Gene - OMIM - HGNC]
  • KCNRG:potassium channel regulator [Gene - OMIM - HGNC]
  • KCTD4:potassium channel tetramerization domain containing 4 [Gene - HGNC]
  • RNASEH2B:ribonuclease H2 subunit B [Gene - OMIM - HGNC]
  • RUBCNL:rubicon like autophagy enhancer [Gene - OMIM - HGNC]
  • SERPINE3:serpin family E member 3 [Gene - HGNC]
  • SIAH3:siah E3 ubiquitin protein ligase family member 3 [Gene - OMIM - HGNC]
  • SLC25A30:solute carrier family 25 member 30 [Gene - OMIM - HGNC]
  • SUCLA2:succinate-CoA ligase ADP-forming subunit beta [Gene - OMIM - HGNC]
  • TRIM13:tripartite motif containing 13 [Gene - OMIM - HGNC]
  • TPT1:tumor protein, translationally-controlled 1 [Gene - OMIM - HGNC]
  • ZC3H13:zinc finger CCCH-type containing 13 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q14.12-14.3
Genomic location:
Chr13: 45487628 - 52639336 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)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
    SCV001435514Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Likely pathogenic
    (Feb 17, 2020)
    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, SCV001435514.1

    #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: Oct 14, 2023