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GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
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:
RCV002293401.1

Allele description [Variation Report for GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1]

GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1

Genes:
  • AGAP10:ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 [Gene]
  • AGAP4:ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 [Gene - HGNC]
  • AGAP9:ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 [Gene - HGNC]
  • ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
  • FRMPD2:FERM and PDZ domain containing 2 [Gene - OMIM - HGNC]
  • GPRIN2:G protein regulated inducer of neurite outgrowth 2 [Gene - OMIM - HGNC]
  • ARHGAP22:Rho GTPase activating protein 22 [Gene - OMIM - HGNC]
  • VSTM4:V-set and transmembrane domain containing 4 [Gene - HGNC]
  • WASHC2C:WASH complex subunit 2C [Gene - OMIM - HGNC]
  • WDFY4:WDFY family member 4 [Gene - OMIM - HGNC]
  • ANXA8L1:annexin A8 like 1 [Gene - HGNC]
  • ANXA8:annexin A8 [Gene - OMIM - HGNC]
  • CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
  • C10orf53:chromosome 10 open reading frame 53 [Gene - HGNC]
  • C10orf71:chromosome 10 open reading frame 71 [Gene - HGNC]
  • DRGX:dorsal root ganglia homeobox [Gene - OMIM - HGNC]
  • FAM170B:family with sequence similarity 170 member B [Gene - HGNC]
  • FAM25C:family with sequence similarity 25 member C [Gene - HGNC]
  • FAM25E:family with sequence similarity 25 member E [Gene - HGNC]
  • FAM25G:family with sequence similarity 25 member G [Gene - HGNC]
  • GDF10:growth differentiation factor 10 [Gene - OMIM - HGNC]
  • GDF2:growth differentiation factor 2 [Gene - OMIM - HGNC]
  • LRRC18:leucine rich repeat containing 18 [Gene - OMIM - HGNC]
  • MSMB:microseminoprotein beta [Gene - OMIM - HGNC]
  • MAPK8:mitogen-activated protein kinase 8 [Gene - OMIM - HGNC]
  • NPY4R:neuropeptide Y receptor Y4 [Gene - OMIM - HGNC]
  • NCOA4:nuclear receptor coactivator 4 [Gene - OMIM - HGNC]
  • OGDHL:oxoglutarate dehydrogenase L [Gene - OMIM - HGNC]
  • PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]
  • PARG:poly(ADP-ribose) glycohydrolase [Gene - OMIM - HGNC]
  • PTPN20:protein tyrosine phosphatase non-receptor type 20 [Gene - OMIM - HGNC]
  • RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
  • SLC18A3:solute carrier family 18 member A3 [Gene - OMIM - HGNC]
  • SYT15:synaptotagmin 15 [Gene - OMIM - HGNC]
  • TIMM23:translocase of inner mitochondrial membrane 23 [Gene - OMIM - HGNC]
  • TMEM273:transmembrane protein 273 [Gene - HGNC]
  • ZNF488:zinc finger protein 488 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10q11.22-11.23
Genomic location:
Chr10: 46287821 - 51627470 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1
HGVS:

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV002586399Cytogenetics, Genetics Associates, Inc.
    no assertion criteria provided
    Pathogenicunknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Cytogenetics, Genetics Associates, Inc., SCV002586399.1

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

    Last Updated: Mar 26, 2023