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GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1 AND not specified

Germline classification:
Pathogenic (1 submission)
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:
RCV003986861.1

Allele description [Variation Report for GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1]

GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1

Genes:
  • HOGA1:4-hydroxy-2-oxoglutarate aldolase 1 [Gene - OMIM - HGNC]
  • HTR7:5-hydroxytryptamine receptor 7 [Gene - OMIM - HGNC]
  • BLNK:B cell linker [Gene - OMIM - HGNC]
  • BTAF1:B-TFIID TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
  • DNTT:DNA nucleotidylexotransferase [Gene - OMIM - HGNC]
  • FRA10AC1:FRA10A associated CGG repeat 1 [Gene - OMIM - HGNC]
  • FRAT1:FRAT regulator of WNT signaling pathway 1 [Gene - OMIM - HGNC]
  • FRAT2:FRAT regulator of WNT signaling pathway 2 [Gene - OMIM - HGNC]
  • HECTD2:HECT domain E3 ubiquitin protein ligase 2 [Gene - HGNC]
  • MARVELD1:MARVEL domain containing 1 [Gene - OMIM - HGNC]
  • MMS19:MMS19 homolog, cytosolic iron-sulfur assembly component [Gene - OMIM - HGNC]
  • MORN4:MORN repeat containing 4 [Gene - OMIM - HGNC]
  • NOC3L:NOC3 like DNA replication regulator [Gene - OMIM - HGNC]
  • PDLIM1:PDZ and LIM domain 1 [Gene - OMIM - HGNC]
  • R3HCC1L:R3H domain and coiled-coil containing 1 like [Gene - HGNC]
  • ARHGAP19:Rho GTPase activating protein 19 [Gene - OMIM - HGNC]
  • TBC1D12:TBC1 domain family member 12 [Gene - OMIM - HGNC]
  • ACSM6:acyl-CoA synthetase medium chain family member 6 [Gene - HGNC]
  • ALDH18A1:aldehyde dehydrogenase 18 family member A1 [Gene - OMIM - HGNC]
  • ANKRD1:ankyrin repeat domain 1 [Gene - OMIM - HGNC]
  • ANKRD2:ankyrin repeat domain 2 [Gene - OMIM - HGNC]
  • AVPI1:arginine vasopressin induced 1 [Gene - OMIM - HGNC]
  • CRTAC1:cartilage acidic protein 1 [Gene - OMIM - HGNC]
  • CEP55:centrosomal protein 55 [Gene - OMIM - HGNC]
  • CH25H:cholesterol 25-hydroxylase [Gene - OMIM - HGNC]
  • C10orf12:chromosome 10 open reading frame 12 [Gene - HGNC]
  • C10orf131:chromosome 10 open reading frame 131 [Gene - HGNC]
  • C10orf62:chromosome 10 open reading frame 62 [Gene - HGNC]
  • CC2D2B:coiled-coil and C2 domain containing 2B [Gene - HGNC]
  • CCNJ:cyclin J [Gene - OMIM - HGNC]
  • CYP2C18:cytochrome P450 family 2 subfamily C member 18 [Gene - OMIM - HGNC]
  • CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
  • CYP2C8:cytochrome P450 family 2 subfamily C member 8 [Gene - OMIM - HGNC]
  • CYP2C9:cytochrome P450 family 2 subfamily C member 9 [Gene - OMIM - HGNC]
  • CYP26A1:cytochrome P450 family 26 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP26C1:cytochrome P450 family 26 subfamily C member 1 [Gene - OMIM - HGNC]
  • CPEB3:cytoplasmic polyadenylation element binding protein 3 [Gene - OMIM - HGNC]
  • ENTPD1:ectonucleoside triphosphate diphosphohydrolase 1 [Gene - OMIM - HGNC]
  • EXOC6:exocyst complex component 6 [Gene - OMIM - HGNC]
  • EXOSC1:exosome component 1 [Gene - OMIM - HGNC]
  • FGFBP3:fibroblast growth factor binding protein 3 [Gene - HGNC]
  • FFAR4:free fatty acid receptor 4 [Gene - OMIM - HGNC]
  • GOLGA7B:golgin A7 family member B [Gene - OMIM - HGNC]
  • HELLS:helicase, lymphoid specific [Gene - OMIM - HGNC]
  • HHEX:hematopoietically expressed homeobox [Gene - OMIM - HGNC]
  • IDE:insulin degrading enzyme [Gene - OMIM - HGNC]
  • IFIT1:interferon induced protein with tetratricopeptide repeats 1 [Gene - OMIM - HGNC]
  • IFIT1B:interferon induced protein with tetratricopeptide repeats 1B [Gene - HGNC]
  • IFIT2:interferon induced protein with tetratricopeptide repeats 2 [Gene - OMIM - HGNC]
  • IFIT3:interferon induced protein with tetratricopeptide repeats 3 [Gene - OMIM - HGNC]
  • IFIT5:interferon induced protein with tetratricopeptide repeats 5 [Gene - OMIM - HGNC]
  • KIF11:kinesin family member 11 [Gene - OMIM - HGNC]
  • KIF20B:kinesin family member 20B [Gene - OMIM - HGNC]
  • LGI1:leucine rich glioma inactivated 1 [Gene - OMIM - HGNC]
  • LCOR:ligand dependent nuclear receptor corepressor [Gene - OMIM - HGNC]
  • LIPA:lipase A, lysosomal acid type [Gene - OMIM - HGNC]
  • LOXL4:lysyl oxidase like 4 [Gene - OMIM - HGNC]
  • MARCHF5:membrane associated ring-CH-type finger 5 [Gene - OMIM - HGNC]
  • MIR107:microRNA 107 [Gene - OMIM - HGNC]
  • MYOF:myoferlin [Gene - OMIM - HGNC]
  • OPALIN:oligodendrocytic myelin paranodal and inner loop protein [Gene - OMIM - HGNC]
  • PANK1:pantothenate kinase 1 [Gene - OMIM - HGNC]
  • PI4K2A:phosphatidylinositol 4-kinase type 2 alpha [Gene - OMIM - HGNC]
  • PDE6C:phosphodiesterase 6C [Gene - OMIM - HGNC]
  • PGAM1:phosphoglycerate mutase 1 [Gene - OMIM - HGNC]
  • PIK3AP1:phosphoinositide-3-kinase adaptor protein 1 [Gene - OMIM - HGNC]
  • PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]
  • PCGF5:polycomb group ring finger 5 [Gene - OMIM - HGNC]
  • PPP1R3C:protein phosphatase 1 regulatory subunit 3C [Gene - OMIM - HGNC]
  • RBP4:retinol binding protein 4 [Gene - OMIM - HGNC]
  • RPP30:ribonuclease P/MRP subunit p30 [Gene - OMIM - HGNC]
  • RRP12:ribosomal RNA processing 12 homolog [Gene - OMIM - HGNC]
  • SFRP5:secreted frizzled related protein 5 [Gene - OMIM - HGNC]
  • SLIT1:slit guidance ligand 1 [Gene - OMIM - HGNC]
  • SLC16A12:solute carrier family 16 member 12 [Gene - OMIM - HGNC]
  • SLC35G1:solute carrier family 35 member G1 [Gene - OMIM - HGNC]
  • SORBS1:sorbin and SH3 domain containing 1 [Gene - OMIM - HGNC]
  • TNKS2:tankyrase 2 [Gene - OMIM - HGNC]
  • TCTN3:tectonic family member 3 [Gene - OMIM - HGNC]
  • TLL2:tolloid like 2 [Gene - OMIM - HGNC]
  • TM9SF3:transmembrane 9 superfamily member 3 [Gene - OMIM - HGNC]
  • UBTD1:ubiquitin domain containing 1 [Gene - OMIM - HGNC]
  • ZDHHC16:zinc finger DHHC-type palmitoyltransferase 16 [Gene - OMIM - HGNC]
  • ZFYVE27:zinc finger FYVE-type containing 27 [Gene - OMIM - HGNC]
  • ZNF518A:zinc finger protein 518A [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10q23.31-24.2
Genomic location:
Chr10: 90796994 - 100067505 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    AllHighlyPenetrant
    Identifiers:
    MedGen: CN169374

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV004802990ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)
    Pathogenicgermlineclinical testing

    Citation Link

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknown1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802990.1

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

    Last Updated: Mar 30, 2024