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GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 24, 2020
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:
RCV001834299.1

Allele description [Variation Report for GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3]

GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3

Genes:
  • C1QTNF7:C1q and TNF related 7 [Gene - HGNC]
  • CD38:CD38 molecule [Gene - OMIM - HGNC]
  • FBXL5:F-box and leucine rich repeat protein 5 [Gene - OMIM - HGNC]
  • NKX3-2:NK3 homeobox 2 [Gene - OMIM - HGNC]
  • RAB28:RAB28, member RAS oncogene family [Gene - OMIM - HGNC]
  • WDR1:WD repeat domain 1 [Gene - OMIM - HGNC]
  • BOD1L1:biorientation of chromosomes in cell division 1 like 1 [Gene - OMIM - HGNC]
  • BST1:bone marrow stromal cell antigen 1 [Gene - OMIM - HGNC]
  • CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
  • CLNK:cytokine dependent hematopoietic cell linker [Gene - OMIM - HGNC]
  • CPEB2:cytoplasmic polyadenylation element binding protein 2 [Gene - OMIM - HGNC]
  • DRD5:dopamine receptor D5 [Gene - OMIM - HGNC]
  • FAM200B:family with sequence similarity 200 member B [Gene - HGNC]
  • FGFBP1:fibroblast growth factor binding protein 1 [Gene - OMIM - HGNC]
  • FGFBP2:fibroblast growth factor binding protein 2 [Gene - OMIM - HGNC]
  • HS3ST1:heparan sulfate-glucosamine 3-sulfotransferase 1 [Gene - OMIM - HGNC]
  • PROM1:prominin 1 [Gene - OMIM - HGNC]
  • SLC2A9:solute carrier family 2 member 9 [Gene - OMIM - HGNC]
  • TAPT1:transmembrane anterior posterior transformation 1 [Gene - OMIM - HGNC]
  • ZNF518B:zinc finger protein 518B [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4p16.1-15.32
Genomic location:
Chr4: 9577432 - 16223471 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)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
    SCV002096717Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Likely pathogenic
    (Jun 24, 2020)     		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, SCV002096717.1

    #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: Apr 23, 2022