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GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3 AND Chromosome 22q11.2 deletion syndrome, distal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 23, 2022
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:
RCV003329514.1

Allele description [Variation Report for GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3]

GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3

Genes:
  • ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
  • CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • DGCR8:DGCR8 microprocessor complex subunit [Gene - OMIM - HGNC]
  • DGCR2:DiGeorge syndrome critical region gene 2 [Gene - OMIM - HGNC]
  • DGCR6L:DiGeorge syndrome critical region gene 6 like [Gene - OMIM - HGNC]
  • DGCR6:DiGeorge syndrome critical region gene 6 [Gene - OMIM - HGNC]
  • GNB1L:G protein subunit beta 1 like [Gene - OMIM - HGNC]
  • RANBP1:RAN binding protein 1 [Gene - OMIM - HGNC]
  • RIMBP3:RIMS binding protein 3 [Gene - OMIM - HGNC]
  • TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
  • THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
  • AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - HGNC]
  • COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]
  • CDC45:cell division cycle 45 [Gene - OMIM - HGNC]
  • C22orf39:chromosome 22 open reading frame 39 [Gene - HGNC]
  • CLTCL1:clathrin heavy chain like 1 [Gene - OMIM - HGNC]
  • CLDN5:claudin 5 [Gene - OMIM - HGNC]
  • ESS2:ess-2 splicing factor homolog [Gene - OMIM - HGNC]
  • FAM230A:family with sequence similarity 230 member A [Gene - HGNC]
  • GGTLC3:gamma-glutamyltransferase light chain family member 3 [Gene - OMIM - HGNC]
  • GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
  • GSC2:goosecoid homeobox 2 [Gene - OMIM - HGNC]
  • HIRA:histone cell cycle regulator [Gene - OMIM - HGNC]
  • KLHL22:kelch like family member 22 [Gene - OMIM - HGNC]
  • LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
  • MED15:mediator complex subunit 15 [Gene - OMIM - HGNC]
  • MRPL40:mitochondrial ribosomal protein L40 [Gene - OMIM - HGNC]
  • PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
  • PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
  • P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
  • RTN4R:reticulon 4 receptor [Gene - OMIM - HGNC]
  • RTL10:retrotransposon Gag like 10 [Gene - HGNC]
  • SCARF2:scavenger receptor class F member 2 [Gene - OMIM - HGNC]
  • SEPTIN5:septin 5 [Gene - OMIM - HGNC]
  • SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]
  • SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]
  • SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
  • SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]
  • TRMT2A:tRNA methyltransferase 2 homolog A [Gene - OMIM - HGNC]
  • TSSK2:testis specific serine kinase 2 [Gene - OMIM - HGNC]
  • TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
  • TMEM191B:transmembrane protein 191B [Gene - HGNC]
  • TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
  • UFD1:ubiquitin recognition factor in ER associated degradation 1 [Gene - OMIM - HGNC]
  • USP41:ubiquitin specific peptidase 41 [Gene - HGNC]
  • ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
  • ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.21
Genomic location:
Chr22: 18893838 - 21416074 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3
HGVS:

    Condition(s)

    Name:
    Chromosome 22q11.2 deletion syndrome, distal
    Identifiers:
    MONDO: MONDO:0012740; MedGen: C2678480; OMIM: 611867

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004036115Institute of Human Genetics, University of Leipzig Medical Center
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Nov 23, 2022)     		unknownclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Institute of Human Genetics, University of Leipzig Medical Center, SCV004036115.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Sep 30, 2023