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GRCh37/hg19 13q34(chr13:112071769-115107733)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004442810.1

Allele description [Variation Report for GRCh37/hg19 13q34(chr13:112071769-115107733)x3]

GRCh37/hg19 13q34(chr13:112071769-115107733)x3

Genes:
  • ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]
  • ATP11AUN:ATP11A upstream neighbor lncRNA [Gene - HGNC]
  • ATP4B:ATPase H+/K+ transporting subunit beta [Gene - OMIM - HGNC]
  • ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
  • MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
  • PCID2:PCI domain containing 2 [Gene - OMIM - HGNC]
  • RASA3:RAS p21 protein activator 3 [Gene - OMIM - HGNC]
  • SOX1:SRY-box transcription factor 1 [Gene - OMIM - HGNC]
  • SWINGN:SWI/SNF complex interacting GAS6 enhancer non-coding RNA [Gene - HGNC]
  • UPF3A:UPF3A regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • CDC16:cell division cycle 16 [Gene - OMIM - HGNC]
  • CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
  • F7:coagulation factor VII [Gene - OMIM - HGNC]
  • F10:coagulation factor X [Gene - OMIM - HGNC]
  • CUL4A:cullin 4A [Gene - OMIM - HGNC]
  • DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
  • GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
  • GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
  • LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
  • PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
  • SPACA7:sperm acrosome associated 7 [Gene - HGNC]
  • TFDP1:transcription factor Dp-1 [Gene - OMIM - HGNC]
  • TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
  • TMEM255B:transmembrane protein 255B [Gene - HGNC]
  • TUBGCP3:tubulin gamma complex component 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q34
Genomic location:
Chr13: 112071769 - 115107733 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q34(chr13:112071769-115107733)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV004934048Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)
    Uncertain significanceunknownclinical testing

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    Asianunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital, SCV004934048.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1Asiannot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot provideddiscoverynot providednot providednot providednot provided

    Last Updated: May 7, 2024