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GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3 AND See cases

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:
RCV004442788.1

Allele description [Variation Report for GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3]

GRCh37/hg19 22q11.23(chr22:23652549-25002659)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]
  • 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]
  • 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]
  • IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
  • LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
  • MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
  • MMP11:matrix metallopeptidase 11 [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:
22q11.23
Genomic location:
Chr22: 23652549 - 25002659 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3
HGVS:

    Condition(s)

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

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004934026Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenicunknownclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    Asianunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital, SCV004934026.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1Asiannot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot provideddiscoverynot providednot providednot providednot provided

    Last Updated: May 7, 2024