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GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 5, 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:
RCV001258776.2

Allele description [Variation Report for GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3]

GRCh37/hg19 22q11.23(chr22:23650873-25043046)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: 23650873 - 25043046 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.23(chr22:23650873-25043046)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
    SCV001435745Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Apr 5, 2022)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot 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.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001435745.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)

    Description

    The 22q11.23 gain encompasses the type III (LCR F-H) 22q11.2 distal duplication region, which has been reported in patients with developmental delay and other neurocognitive features. In a review of 30 cases by Pinchefsky et al. (Child Neurol Open. 2017 Nov 1;4:2329048X17737651. PMID:29147671), common features included developmental delay (93%), neuropsychiatric features (26%), and nonspecific facial dysmorphism (74%). In 70% of cases, the distal 22q11.2 duplications were inherited and many, but not all, of the carrier parents were phenotypically normal. Thus, reduced penetrance and variable expressivity are exhibited. In a recent publication, whole exome sequencing study identified additional pathogenic sequencing variants in two unrelated severely affected individuals who carry gains of this locus. The authors suggested the relevance of additional genetic testing when clinical presentation is either unusually severe or associated with atypical features. (Demily et al., J Autism Dev Disord. 2018 Aug;48(8):2886-2889. PMID: 29589274). There are also reports of patients with overlapping duplications who have achygyria, seizures, hypotonia, growth retardation, esophageal atresia, tracheoesophageal fistula, and cardiac defects (Chang J, et al., Gene. 2015 Sep 10;569(1):46-50. PMID: 26099517; Puvabanditsin S, et al., Genet Couns. 2015;26(3):313-20. PMID: 26625662; Tan et al. Am J Med Genet A. 2011 Jul;155A(7):1623-33. PMID: 21671380; Wincent et al., Mol Syndromol. 2010;1(5):246-254. PMID: 22140377; Coppinger, et al., Hum Mol Genet. 2009 Apr 15;18(8):1377-83. PMID: 19193630).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Dec 31, 2022