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GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 16, 2017
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:
RCV000845945.2

Allele description [Variation Report for GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3]

GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3

Genes:
  • AGAP10:ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 [Gene]
  • 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]
  • ARHGAP22:Rho GTPase activating protein 22 [Gene - OMIM - HGNC]
  • VSTM4:V-set and transmembrane domain containing 4 [Gene - 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]
  • 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]
  • 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]
  • 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 gain
Cytogenetic location:
10q11.22-11.23
Genomic location:
Chr10: 47148813 - 51626260 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)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
    SCV000988066Bionano Laboratories
    no assertion criteria provided
    		Pathogenic
    (May 16, 2017)     		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, SCV000988066.1

    #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