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GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2022
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:
RCV002262373.5

Allele description

GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1

Genes:
  • ADAMTS15:ADAM metallopeptidase with thrombospondin type 1 motif 15 [Gene - OMIM - HGNC]
  • ADAMTS8:ADAM metallopeptidase with thrombospondin type 1 motif 8 [Gene - OMIM - HGNC]
  • BARX2:BARX homeobox 2 [Gene - OMIM - HGNC]
  • FLI1:Fli-1 proto-oncogene, ETS transcription factor [Gene - OMIM - HGNC]
  • KCNJ5-AS1:KCNJ5 antisense RNA 1 [Gene - HGNC]
  • PRDM10:PR/SET domain 10 [Gene - OMIM - HGNC]
  • ARHGAP32:Rho GTPase activating protein 32 [Gene - OMIM - HGNC]
  • ST14:ST14 transmembrane serine protease matriptase [Gene - OMIM - HGNC]
  • VPS26B:VPS26 retromer complex component B [Gene - OMIM - HGNC]
  • ACAD8:acyl-CoA dehydrogenase family member 8 [Gene - OMIM - HGNC]
  • APLP2:amyloid beta precursor like protein 2 [Gene - OMIM - HGNC]
  • B3GAT1:beta-1,3-glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • GLB1L2:galactosidase beta 1 like 2 [Gene - HGNC]
  • GLB1L3:galactosidase beta 1 like 3 [Gene - HGNC]
  • IGSF9B:immunoglobulin superfamily member 9B [Gene - OMIM - HGNC]
  • JAM3:junctional adhesion molecule 3 [Gene - OMIM - HGNC]
  • LINC02743:long intergenic non-protein coding RNA 2743 [Gene - HGNC]
  • LINC02873:long intergenic non-protein coding RNA 2873 [Gene - HGNC]
  • NTM:neurotrimin [Gene - OMIM - HGNC]
  • NCAPD3:non-SMC condensin II complex subunit D3 [Gene - OMIM - HGNC]
  • NFRKB:nuclear factor related to kappaB binding protein [Gene - OMIM - HGNC]
  • OPCML:opioid binding protein/cell adhesion molecule like [Gene - OMIM - HGNC]
  • KCNJ1:potassium inwardly rectifying channel subfamily J member 1 [Gene - OMIM - HGNC]
  • KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]
  • SNX19:sorting nexin 19 [Gene - HGNC]
  • SPATA19:spermatogenesis associated 19 [Gene - OMIM - HGNC]
  • THYN1:thymocyte nuclear protein 1 [Gene - OMIM - HGNC]
  • TMEM45B:transmembrane protein 45B [Gene - HGNC]
  • TP53AIP1:tumor protein p53 regulated apoptosis inducing protein 1 [Gene - OMIM - HGNC]
  • ZBTB44:zinc finger and BTB domain containing 44 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11q24.3-25
Genomic location:
Chr11: 128634685 - 134257741 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1
HGVS:
    Observations:
    1

    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
    SCV002544988CeGaT Center for Human Genetics Tuebingen
    criteria provided, single submitter

    (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)    		Pathogenic
    (Jun 1, 2022)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From CeGaT Center for Human Genetics Tuebingen, SCV002544988.5

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Sep 16, 2023