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GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 1, 2021
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:
RCV001833065.1

Allele description [Variation Report for GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3]

GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3

Genes:
  • ATP4A:ATPase H+/K+ transporting subunit alpha [Gene - OMIM - HGNC]
  • CLIP3:CAP-Gly domain containing linker protein 3 [Gene - OMIM - HGNC]
  • ETV2:ETS variant transcription factor 2 [Gene - OMIM - HGNC]
  • HAUS5:HAUS augmin like complex subunit 5 [Gene - OMIM - HGNC]
  • IGFLR1:IGF like family receptor 1 [Gene - OMIM - HGNC]
  • NFKBID:NFKB inhibitor delta [Gene - OMIM - HGNC]
  • NPHS1:NPHS1 adhesion molecule, nephrin [Gene - OMIM - HGNC]
  • RBM42:RNA binding motif protein 42 [Gene - OMIM - HGNC]
  • ARHGAP33:Rho GTPase activating protein 33 [Gene - OMIM - HGNC]
  • U2AF1L4:U2 small nuclear RNA auxiliary factor 1 like 4 [Gene - OMIM - HGNC]
  • ALKBH6:alkB homolog 6 [Gene - OMIM - HGNC]
  • APLP1:amyloid beta precursor like protein 1 [Gene - OMIM - HGNC]
  • COX6B1:cytochrome c oxidase subunit 6B1 [Gene - OMIM - HGNC]
  • GAPDHS:glyceraldehyde-3-phosphate dehydrogenase, spermatogenic [Gene - OMIM - HGNC]
  • HSPB6:heat shock protein family B (small) member 6 [Gene - OMIM - HGNC]
  • HCST:hematopoietic cell signal transducer [Gene - OMIM - HGNC]
  • KIRREL2:kirre like nephrin family adhesion molecule 2 [Gene - OMIM - HGNC]
  • LRFN3:leucine rich repeat and fibronectin type III domain containing 3 [Gene - OMIM - HGNC]
  • LIN37:lin-37 DREAM MuvB core complex component [Gene - HGNC]
  • KMT2B:lysine methyltransferase 2B [Gene - OMIM - HGNC]
  • PSENEN:presenilin enhancer, gamma-secretase subunit [Gene - OMIM - HGNC]
  • PROSER3:proline and serine rich 3 [Gene - HGNC]
  • PRODH2:proline dehydrogenase 2 [Gene - OMIM - HGNC]
  • SYNE4:spectrin repeat containing nuclear envelope family member 4 [Gene - OMIM - HGNC]
  • SDHAF1:succinate dehydrogenase complex assembly factor 1 [Gene - OMIM - HGNC]
  • SBSN:suprabasin [Gene - OMIM - HGNC]
  • TYROBP:transmembrane immune signaling adaptor TYROBP [Gene - OMIM - HGNC]
  • TMEM147:transmembrane protein 147 [Gene - OMIM - HGNC]
  • UPK1A:uroplakin 1A [Gene - OMIM - HGNC]
  • ZBTB32:zinc finger and BTB domain containing 32 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19q13.12
Genomic location:
Chr19: 36019064 - 36516110 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19q13.12(chr19:36019064-36516110)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
    SCV002096327Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Uncertain significance
    (Apr 1, 2021)
    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, SCV002096327.1

    #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