U.S. flag

An official website of the United States government

GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 25, 2021
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:
RCV001293650.2

Allele description [Variation Report for GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3]

GRCh37/hg19 22q11.21(chr22:18886915-21461017)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: 18886915 - 21461017 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    Epilepsy
    Synonyms:
    Seizure Disorders; Seizure disorder
    Identifiers:
    MONDO: MONDO:0005027; MeSH: D004827; MedGen: C0014544
    Name:
    Intellectual disability
    Synonyms:
    Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
    Identifiers:
    MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001481834Institute of Human Genetics, University of Leipzig Medical Center
    no assertion criteria provided
    		Pathogenic
    (Feb 25, 2021)     		unknownclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From Institute of Human Genetics, University of Leipzig Medical Center, SCV001481834.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    11not providednot providedclinical testingnot provided

    Description

    The copy number variant arr[GRCh37] 22q11.21(18886915_21461017)x3 was identified in an individual with Epilepsy + NDD. Inheritance was not applicable (heterozygous). The variant was reviewed according to current ClinGen recommendations and classified as Pathogenic (criteria: 1A(0), 2A(1), 3B(0.45), 4E(0.1), 5H(0.3), Total score=1.85).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Sep 30, 2023