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GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 15, 2018
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:
RCV000846628.2

Allele description [Variation Report for GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3]

GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3

Genes:
  • BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • DDTL:D-dopachrome tautomerase like [Gene - HGNC]
  • DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
  • GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
  • RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
  • SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
  • VPREB3:V-set pre-B cell surrogate light chain 3 [Gene - OMIM - HGNC]
  • ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
  • DRICH1:aspartate rich 1 [Gene - HGNC]
  • UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
  • CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
  • C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]
  • CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
  • DERL3:derlin 3 [Gene - OMIM - HGNC]
  • GGT1:gamma-glutamyltransferase 1 [Gene - OMIM - HGNC]
  • GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
  • GGTLC2:gamma-glutamyltransferase light chain 2 [Gene - OMIM - HGNC]
  • GSTT1:glutathione S-transferase theta 1 [Gene - OMIM - HGNC]
  • GSTT2:glutathione S-transferase theta 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • GSTT2B:glutathione S-transferase theta 2B [Gene - HGNC]
  • GUCD1:guanylyl cyclase domain containing 1 [Gene - OMIM - HGNC]
  • IGLC1:immunoglobulin lambda constant 1 [Gene - OMIM - HGNC]
  • IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
  • IGLL5:immunoglobulin lambda like polypeptide 5 [Gene - HGNC]
  • LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
  • MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
  • MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
  • RSPH14:radial spoke head 14 homolog [Gene - OMIM - HGNC]
  • RGL4:ral guanine nucleotide dissociation stimulator like 4 [Gene - OMIM - HGNC]
  • SNRPD3:small nuclear ribonucleoprotein D3 polypeptide [Gene - OMIM - HGNC]
  • SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
  • SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]
  • SUSD2:sushi domain containing 2 [Gene - OMIM - HGNC]
  • ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.22-11.23
Genomic location:
Chr22: 22962195 - 25002659 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000988750Bionano Laboratories
    no assertion criteria provided
    Pathogenic
    (Feb 15, 2018)
    unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000988750.1

    #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