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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:
RCV002262373.16

Allele description [Variation Report for GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1]

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: C3661900

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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

    (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)    		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, SCV002544988.16

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

    Last Updated: Oct 20, 2024