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GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 22, 2015
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:
RCV000511909.3

Allele description [Variation Report for GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3]

GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3

Genes:
  • CCZ1B:CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated [Gene - HGNC]
  • CCZ1:CCZ1 homolog, vacuolar protein trafficking and biogenesis associated [Gene - OMIM - 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]
  • AIMP2:aminoacyl tRNA synthetase complex interacting multifunctional protein 2 [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]
  • 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:
7p22.1
Genomic location:
Chr7: 4839046 - 7110343 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3
HGVS:
    Links:
    dbVar: nssv13642658; dbVar: nsv2778611
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000586080ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Likely pathogenic
    (Jun 22, 2015)     		de novoclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

    Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

    PubMed [citation]
    PMID:
    20466091
    PMCID:
    PMC2869000

    Details of each submission

    From ISCA site 1, SCV000586080.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 7, 2024