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GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 7, 2023
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:
RCV003159553.1

Allele description [Variation Report for GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3]

GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3

Genes:
  • ABCC4:ATP binding cassette subfamily C member 4 [Gene - OMIM - HGNC]
  • BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
  • DZIP1:DAZ interacting zinc finger protein 1 [Gene - OMIM - HGNC]
  • DNAJC3:DnaJ heat shock protein family (Hsp40) member C3 [Gene - OMIM - HGNC]
  • ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]
  • FARP1:FERM, ARH/RhoGEF and pleckstrin domain protein 1 [Gene - OMIM - HGNC]
  • GPR183:G protein-coupled receptor 183 [Gene - OMIM - HGNC]
  • GPR18:G protein-coupled receptor 18 [Gene - OMIM - HGNC]
  • RAP2A:RAP2A, member of RAS oncogene family [Gene - OMIM - HGNC]
  • UBAC2:UBA domain containing 2 [Gene - HGNC]
  • UGGT2:UDP-glucose glycoprotein glucosyltransferase 2 [Gene - OMIM - HGNC]
  • ZIC2:Zic family member 2 [Gene - OMIM - HGNC]
  • ZIC5:Zic family member 5 [Gene - OMIM - HGNC]
  • BIVM:basic, immunoglobulin-like variable motif containing [Gene - OMIM - HGNC]
  • CLYBL:citramalyl-CoA lyase [Gene - OMIM - HGNC]
  • CLDN10:claudin 10 [Gene - OMIM - HGNC]
  • CCDC168:coiled-coil domain containing 168 [Gene - HGNC]
  • DOCK9:dedicator of cytokinesis 9 [Gene - OMIM - HGNC]
  • FGF14:fibroblast growth factor 14 [Gene - OMIM - HGNC]
  • GGACT:gamma-glutamylamine cyclotransferase [Gene - OMIM - HGNC]
  • HS6ST3:heparan sulfate 6-O-sulfotransferase 3 [Gene - OMIM - HGNC]
  • IPO5:importin 5 [Gene - OMIM - HGNC]
  • ITGBL1:integrin subunit beta like 1 [Gene - OMIM - HGNC]
  • METTL21C:methyltransferase 21C, AARS1 lysine [Gene - OMIM - HGNC]
  • MBNL2:muscleblind like splicing regulator 2 [Gene - OMIM - HGNC]
  • OXGR1:oxoglutarate receptor 1 [Gene - OMIM - HGNC]
  • PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
  • POGLUT2:protein O-glucosyltransferase 2 [Gene - OMIM - HGNC]
  • RNF113B:ring finger protein 113B [Gene - HGNC]
  • STK24:serine/threonine kinase 24 [Gene - OMIM - HGNC]
  • NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]
  • SLC10A2:solute carrier family 10 member 2 [Gene - OMIM - HGNC]
  • SLC15A1:solute carrier family 15 member 1 [Gene - OMIM - HGNC]
  • TEX30:testis expressed 30 [Gene - HGNC]
  • TM9SF2:transmembrane 9 superfamily member 2 [Gene - OMIM - HGNC]
  • TMTC4:transmembrane O-mannosyltransferase targeting cadherins 4 [Gene - OMIM - HGNC]
  • TPP2:tripeptidyl peptidase 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q32.1-33.2
Genomic location:
Chr13: 95675427 - 105286434 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3
HGVS:
    Observations:
    1

    Condition(s)

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

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV003853273Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
    no assertion criteria provided
    Pathogenic
    (Mar 7, 2023)
    de novoclinical testing

    Summary from all submissions

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

    Details of each submission

    From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV003853273.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    11not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Apr 9, 2023