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GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 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:
RCV000848672.2

Allele description [Variation Report for GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3]

GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3

Genes:
  • ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]
  • ANKRD10-IT1:ANKRD10 intronic transcript 1 [Gene - HGNC]
  • ATP11AUN:ATP11A upstream neighbor lncRNA [Gene - HGNC]
  • ATP4B:ATPase H+/K+ transporting subunit beta [Gene - OMIM - HGNC]
  • ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
  • MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
  • NAXD:NAD(P)HX dehydratase [Gene - OMIM - HGNC]
  • PCID2:PCI domain containing 2 [Gene - OMIM - HGNC]
  • RAB20:RAB20, member RAS oncogene family [Gene - HGNC]
  • RASA3:RAS p21 protein activator 3 [Gene - OMIM - HGNC]
  • ARHGEF7:Rho guanine nucleotide exchange factor 7 [Gene - OMIM - HGNC]
  • SOX1:SRY-box transcription factor 1 [Gene - OMIM - HGNC]
  • SWINGN:SWI/SNF complex interacting GAS6 enhancer non-coding RNA [Gene - HGNC]
  • UPF3A:UPF3A regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • ANKRD10:ankyrin repeat domain 10 [Gene - HGNC]
  • CDC16:cell division cycle 16 [Gene - OMIM - HGNC]
  • CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
  • F7:coagulation factor VII [Gene - OMIM - HGNC]
  • F10:coagulation factor X [Gene - OMIM - HGNC]
  • COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
  • COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
  • CUL4A:cullin 4A [Gene - OMIM - HGNC]
  • CARS2:cysteinyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
  • GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
  • GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
  • ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]
  • IRS2:insulin receptor substrate 2 [Gene - OMIM - HGNC]
  • LINC00567:long intergenic non-protein coding RNA 567 [Gene - HGNC]
  • LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
  • MYO16:myosin XVI [Gene - OMIM - HGNC]
  • PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
  • SPACA7:sperm acrosome associated 7 [Gene - HGNC]
  • TEX29:testis expressed 29 [Gene - HGNC]
  • TFDP1:transcription factor Dp-1 [Gene - OMIM - HGNC]
  • TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
  • TMEM255B:transmembrane protein 255B [Gene - HGNC]
  • TUBGCP3:tubulin gamma complex associated protein 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q33.3-34
Genomic location:
Chr13: 109203109 - 115107733 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3
HGVS:

    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
    SCV000990814Bionano Laboratories
    no assertion criteria provided
    		Uncertain significance
    (Mar 9, 2018)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000990814.1

    #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