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GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 30, 2017
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:
RCV000682900.1

Allele description [Variation Report for GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3]

GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3

Genes:
  • CCZ1B:CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated [Gene - HGNC]
  • CCZ1:CCZ1 homolog, vacuolar protein trafficking and biogenesis associated [Gene - HGNC]
  • FBXL18:F-box and leucine rich repeat protein 18 [Gene - OMIM - HGNC]
  • GRID2IP:Grid2 interacting protein [Gene - OMIM - HGNC]
  • KDELR2:KDEL endoplasmic reticulum protein retention receptor 2 [Gene - OMIM - HGNC]
  • PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]
  • RBAK:RB associated KRAB zinc finger [Gene - OMIM - HGNC]
  • RBAK-RBAKDN:RBAK-RBAKDN readthrough [Gene - HGNC]
  • RAC1:Rac family small GTPase 1 [Gene - OMIM - HGNC]
  • RADIL:Rap associating with DIL domain [Gene - OMIM - HGNC]
  • WIPI2:WD repeat domain, phosphoinositide interacting 2 [Gene - OMIM - HGNC]
  • ACTB:actin beta [Gene - OMIM - HGNC]
  • AP5Z1:adaptor related protein complex 5 subunit zeta 1 [Gene - OMIM - HGNC]
  • AIMP2:aminoacyl tRNA synthetase complex interacting multifunctional protein 2 [Gene - OMIM - HGNC]
  • C1GALT1:core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 [Gene - OMIM - HGNC]
  • CYTH3:cytohesin 3 [Gene - OMIM - HGNC]
  • DAGLB:diacylglycerol lipase beta [Gene - OMIM - HGNC]
  • EIF2AK1:eukaryotic translation initiation factor 2 alpha kinase 1 [Gene - OMIM - HGNC]
  • FAM220A:family with sequence similarity 220 member A [Gene - OMIM - HGNC]
  • FSCN1:fascin actin-bundling protein 1 [Gene - OMIM - HGNC]
  • FOXK1:forkhead box K1 [Gene - OMIM - HGNC]
  • INTS15:integrator complex subunit 15 [Gene - HGNC]
  • MMD2:monocyte to macrophage differentiation associated 2 [Gene - OMIM - HGNC]
  • OCM:oncomodulin [Gene - OMIM - HGNC]
  • PAPOLB:poly(A) polymerase beta [Gene - OMIM - HGNC]
  • RSPH10B2:radial spoke head 10 homolog B2 [Gene - HGNC]
  • RSPH10B:radial spoke head 10 homolog B [Gene - HGNC]
  • RNF216:ring finger protein 216 [Gene - OMIM - HGNC]
  • SLC29A4:solute carrier family 29 member 4 [Gene - OMIM - HGNC]
  • TNRC18:trinucleotide repeat containing 18 [Gene - HGNC]
  • USP42:ubiquitin specific peptidase 42 [Gene - HGNC]
  • ZDHHC4:zinc finger DHHC-type palmitoyltransferase 4 [Gene - HGNC]
  • ZNF12:zinc finger protein 12 [Gene - OMIM - HGNC]
  • ZNF316:zinc finger protein 316 [Gene - HGNC]
  • ZNF853:zinc finger protein 853 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7p22.2-21.3
Genomic location:
Chr7: 4388620 - 7302293 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)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
    SCV000810407Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Aug 30, 2017)     		germlineclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000810407.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Nov 5, 2022