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GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 21, 2021
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:
RCV002475709.1

Allele description [Variation Report for GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3]

GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3

Genes:
  • DNAJB7:DnaJ heat shock protein family (Hsp40) member B7 [Gene - OMIM - HGNC]
  • EP300:E1A binding protein p300 [Gene - OMIM - HGNC]
  • ENTHD1:ENTH domain containing 1 [Gene - HGNC]
  • GRAP2:GRB2 related adaptor protein 2 [Gene - OMIM - HGNC]
  • L3MBTL2:L3MBTL histone methyl-lysine binding protein 2 [Gene - OMIM - HGNC]
  • L3MBTL2-AS1:L3MBTL2 antisense RNA 1 [Gene - HGNC]
  • PHF5A:PHD finger protein 5A [Gene - OMIM - HGNC]
  • POLR3H:RNA polymerase III subunit H [Gene - OMIM - HGNC]
  • RANGAP1:Ran GTPase activating protein 1 [Gene - OMIM - HGNC]
  • ST13:ST13 Hsp70 interacting protein [Gene - OMIM - HGNC]
  • TEF:TEF transcription factor, PAR bZIP family member [Gene - OMIM - HGNC]
  • TAB1:TGF-beta activated kinase 1 (MAP3K7) binding protein 1 [Gene - OMIM - HGNC]
  • XPNPEP3:X-prolyl aminopeptidase 3 [Gene - OMIM - HGNC]
  • ACO2:aconitase 2 [Gene - OMIM - HGNC]
  • ATF4:activating transcription factor 4 [Gene - OMIM - HGNC]
  • ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]
  • MGAT3:beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • CACNA1I:calcium voltage-gated channel subunit alpha1 I [Gene - OMIM - HGNC]
  • CHADL:chondroadherin like [Gene - OMIM - HGNC]
  • FAM83F:family with sequence similarity 83 member F [Gene - HGNC]
  • MCHR1:melanin concentrating hormone receptor 1 [Gene - OMIM - HGNC]
  • MIEF1:mitochondrial elongation factor 1 [Gene - OMIM - HGNC]
  • MRTFA:myocardin related transcription factor A [Gene - OMIM - HGNC]
  • RPS19BP1:ribosomal protein S19 binding protein 1 [Gene - OMIM - HGNC]
  • RBX1:ring-box 1 [Gene - OMIM - HGNC]
  • SGSM3:small G protein signaling modulator 3 [Gene - OMIM - HGNC]
  • SLC25A17:solute carrier family 25 member 17 [Gene - OMIM - HGNC]
  • SYNGR1:synaptogyrin 1 [Gene - OMIM - HGNC]
  • TOB2:transducer of ERBB2, 2 [Gene - OMIM - HGNC]
  • TNRC6B:trinucleotide repeat containing adaptor 6B [Gene - OMIM - HGNC]
  • ZC3H7B:zinc finger CCCH-type containing 7B [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q13.1-13.2
Genomic location:
Chr22: 39768795 - 41946225 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)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
    SCV002772937Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Uncertain significance
    (Oct 21, 2021)     		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. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002772937.1

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

    Last Updated: Dec 31, 2022