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GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 AND Premature ovarian failure

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 7, 2015
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:
RCV000225330.1

Allele description [Variation Report for GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1]

GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1

Genes:
  • ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
  • BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • DDTL:D-dopachrome tautomerase like [Gene - HGNC]
  • DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
  • DGCR8:DGCR8 microprocessor complex subunit [Gene - OMIM - HGNC]
  • TOP3B:DNA topoisomerase III beta [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]
  • GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
  • GNB1L:G protein subunit beta 1 like [Gene - OMIM - HGNC]
  • HIC2:HIC ZBTB transcriptional repressor 2 [Gene - OMIM - HGNC]
  • KIAA1671:KIAA1671 [Gene - HGNC]
  • LHFPL7:LHFPL tetraspan subfamily member 7 [Gene - HGNC]
  • PPM1F-AS1:PPM1F antisense RNA 1 [Gene - HGNC]
  • PRAME:PRAME nuclear receptor transcriptional regulator [Gene - OMIM - HGNC]
  • RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
  • RANBP1:RAN binding protein 1 [Gene - OMIM - HGNC]
  • RIMBP3:RIMS binding protein 3 [Gene - OMIM - HGNC]
  • RIMBP3B:RIMS binding protein 3B [Gene - OMIM - HGNC]
  • RIMBP3C:RIMS binding protein 3C [Gene - OMIM - HGNC]
  • SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
  • TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
  • THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
  • VPREB1:V-set pre-B cell surrogate light chain 1 [Gene - OMIM - HGNC]
  • VPREB3:V-set pre-B cell surrogate light chain 3 [Gene - OMIM - HGNC]
  • YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - OMIM - HGNC]
  • ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
  • AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - HGNC]
  • DRICH1:aspartate rich 1 [Gene - HGNC]
  • UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
  • CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
  • COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]
  • CDC45:cell division cycle 45 [Gene - OMIM - HGNC]
  • C22orf15:chromosome 22 open reading frame 15 [Gene - 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]
  • CCDC116:coiled-coil domain containing 116 [Gene - HGNC]
  • CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
  • CRYBB2:crystallin beta B2 [Gene - OMIM - HGNC]
  • CRYBB3:crystallin beta B3 [Gene - OMIM - HGNC]
  • DERL3:derlin 3 [Gene - OMIM - HGNC]
  • ESS2:ess-2 splicing factor homolog [Gene - OMIM - HGNC]
  • FAM230A:family with sequence similarity 230 member A [Gene - HGNC]
  • GGT1:gamma-glutamyltransferase 1 [Gene - OMIM - HGNC]
  • GGT2:gamma-glutamyltransferase 2 [Gene - OMIM - HGNC]
  • GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
  • GGTLC2:gamma-glutamyltransferase light chain 2 [Gene - OMIM - HGNC]
  • GGTLC3:gamma-glutamyltransferase light chain family member 3 [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]
  • GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
  • GSC2:goosecoid homeobox 2 [Gene - OMIM - HGNC]
  • GUCD1:guanylyl cyclase domain containing 1 [Gene - OMIM - HGNC]
  • HIRA:histone cell cycle regulator [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]
  • KLHL22:kelch like family member 22 [Gene - OMIM - HGNC]
  • LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
  • LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
  • MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
  • MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
  • MED15:mediator complex subunit 15 [Gene - OMIM - HGNC]
  • MIR130B:microRNA 130b [Gene - OMIM - HGNC]
  • MRPL40:mitochondrial ribosomal protein L40 [Gene - OMIM - HGNC]
  • MAPK1:mitogen-activated protein kinase 1 [Gene - OMIM - HGNC]
  • PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
  • PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
  • PIWIL3:piwi like RNA-mediated gene silencing 3 [Gene - OMIM - HGNC]
  • PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
  • PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - OMIM - HGNC]
  • P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
  • RSPH14:radial spoke head 14 homolog [Gene - OMIM - HGNC]
  • RGL4:ral guanine nucleotide dissociation stimulator like 4 [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]
  • SGSM1:small G protein signaling modulator 1 [Gene - OMIM - HGNC]
  • SNRPD3:small nuclear ribonucleoprotein D3 polypeptide [Gene - OMIM - HGNC]
  • SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
  • SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]
  • SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
  • SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]
  • SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - HGNC]
  • SUSD2:sushi domain containing 2 [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]
  • TMEM191C:transmembrane protein 191C [Gene - HGNC]
  • TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
  • UBE2L3:ubiquitin conjugating enzyme E2 L3 [Gene - OMIM - HGNC]
  • UFD1:ubiquitin recognition factor in ER associated degradation 1 [Gene - OMIM - HGNC]
  • USP41:ubiquitin specific peptidase 41 [Gene - HGNC]
  • YPEL1:yippee like 1 [Gene - OMIM - HGNC]
  • ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
  • ZNF280A:zinc finger protein 280A [Gene - HGNC]
  • ZNF280B:zinc finger protein 280B [Gene - HGNC]
  • ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]
  • ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q11.21-12.1
Genomic location:
Chr22: 18738296 - 25914592 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1
HGVS:

    Condition(s)

    Name:
    Premature ovarian failure (POF)
    Synonyms:
    Primary ovarian insufficiency; Primary ovarian failure
    Identifiers:
    MONDO: MONDO:0005387; MedGen: C0085215

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000212368Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu
    criteria provided, single submitter

    (ACMG CNV Guidelines, 2011)    		Benign
    (Jan 7, 2015)     		unknownreference population

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes1not providednot providednot providednot providedreference population

    Citations

    PubMed

    American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

    Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee.

    Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

    PubMed [citation]
    PMID:
    21681106

    Details of each submission

    From Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, SCV000212368.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedreference population PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Aug 13, 2023