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GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 17, 2018
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:
RCV001007030.1

Allele description [Variation Report for GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3]

GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3

Genes:
  • CCL25:C-C motif chemokine ligand 25 [Gene - OMIM - HGNC]
  • CLEC4G:C-type lectin domain family 4 member G [Gene - OMIM - HGNC]
  • CLEC4M:C-type lectin domain family 4 member M [Gene - OMIM - HGNC]
  • CD209:CD209 molecule [Gene - OMIM - HGNC]
  • CD320:CD320 molecule [Gene - OMIM - HGNC]
  • ELAVL1:ELAV like RNA binding protein 1 [Gene - OMIM - HGNC]
  • FCER2:Fc epsilon receptor II [Gene - OMIM - HGNC]
  • KANK3:KN motif and ankyrin repeat domains 3 [Gene - OMIM - HGNC]
  • NDUFA7:NADH:ubiquinone oxidoreductase subunit A7 [Gene - OMIM - HGNC]
  • PET100:PET100 cytochrome c oxidase chaperone [Gene - OMIM - HGNC]
  • PRAM1:PML-RARA regulated adaptor molecule 1 [Gene - OMIM - HGNC]
  • PCP2:Purkinje cell protein 2 [Gene - OMIM - HGNC]
  • RAB11B:RAB11B, member RAS oncogene family [Gene - OMIM - HGNC]
  • XAB2:XPA binding protein 2 [Gene - OMIM - HGNC]
  • ANGPTL4:angiopoietin like 4 [Gene - OMIM - HGNC]
  • CAMSAP3:calmodulin regulated spectrin associated protein family member 3 [Gene - OMIM - HGNC]
  • CERS4:ceramide synthase 4 [Gene - OMIM - HGNC]
  • CTXN1:cortexin 1 [Gene - OMIM - HGNC]
  • EVI5L:ecotropic viral integration site 5 like [Gene - HGNC]
  • FBN3:fibrillin 3 [Gene - OMIM - HGNC]
  • HNRNPM:heterogeneous nuclear ribonucleoprotein M [Gene - OMIM - HGNC]
  • LRRC8E:leucine rich repeat containing 8 VRAC subunit E [Gene - OMIM - HGNC]
  • MCEMP1:mast cell expressed membrane protein 1 [Gene - OMIM - HGNC]
  • MARCHF2:membrane associated ring-CH-type finger 2 [Gene - OMIM - HGNC]
  • MAP2K7:mitogen-activated protein kinase kinase 7 [Gene - OMIM - HGNC]
  • RETN:resistin [Gene - OMIM - HGNC]
  • RPS28:ribosomal protein S28 [Gene - OMIM - HGNC]
  • SNAPC2:small nuclear RNA activating complex polypeptide 2 [Gene - OMIM - HGNC]
  • STXBP2:syntaxin binding protein 2 [Gene - OMIM - HGNC]
  • TRAPPC5:trafficking protein particle complex subunit 5 [Gene - HGNC]
  • TGFBR3L:transforming growth factor beta receptor 3 like [Gene - HGNC]
  • TIMM44:translocase of inner mitochondrial membrane 44 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19p13.2
Genomic location:
Chr19: 7657490 - 8569762 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV001166597Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Uncertain significance
    (Jul 17, 2018)
    germlineclinical testing

    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, SCV001166597.1

    #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: Mar 26, 2023