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GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2022
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:
RCV002053048.3

Allele description [Variation Report for GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)]

GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)

Genes:
  • HTR2A:5-hydroxytryptamine receptor 2A [Gene - OMIM - HGNC]
  • AKAP11:A-kinase anchoring protein 11 [Gene - OMIM - HGNC]
  • ARL11:ADP ribosylation factor like GTPase 11 [Gene - OMIM - HGNC]
  • ALG11:ALG11 alpha-1,2-mannosyltransferase [Gene - OMIM - HGNC]
  • ALG5:ALG5 dolichyl-phosphate beta-glucosyltransferase [Gene - OMIM - HGNC]
  • ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
  • BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
  • CCDC169-SOHLH2:CCDC169-SOHLH2 readthrough [Gene - HGNC]
  • DNAJC15:DnaJ heat shock protein family (Hsp40) member C15 [Gene - OMIM - HGNC]
  • ELF1:E74 like ETS transcription factor 1 [Gene - OMIM - HGNC]
  • EBPL:EBP like [Gene - OMIM - HGNC]
  • FREM2:FRAS1 related extracellular matrix 2 [Gene - OMIM - HGNC]
  • GPALPP1:GPALPP motifs containing 1 [Gene - HGNC]
  • LHFPL6:LHFPL tetraspan subfamily member 6 [Gene - OMIM - HGNC]
  • NAA16:N-alpha-acetyltransferase 16, NatA auxiliary subunit [Gene - OMIM - HGNC]
  • N4BP2L1:NEDD4 binding protein 2 like 1 [Gene - HGNC]
  • N4BP2L2:NEDD4 binding protein 2 like 2 [Gene - OMIM - HGNC]
  • NHLRC3:NHL repeat containing 3 [Gene - HGNC]
  • NEK3:NIMA related kinase 3 [Gene - OMIM - HGNC]
  • NEK5:NIMA related kinase 5 [Gene - OMIM - HGNC]
  • PDS5B:PDS5 cohesin associated factor B [Gene - OMIM - HGNC]
  • PHF11:PHD finger protein 11 [Gene - OMIM - HGNC]
  • RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
  • RCBTB1:RCC1 and BTB domain containing protein 1 [Gene - OMIM - HGNC]
  • RCBTB2:RCC1 and BTB domain containing protein 2 [Gene - OMIM - HGNC]
  • SETDB2:SET domain bifurcated histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • SUGT1:SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Gene - OMIM - HGNC]
  • SLC25A30-AS1:SLC25A30 antisense RNA 1 [Gene - HGNC]
  • SMAD9:SMAD family member 9 [Gene - OMIM - HGNC]
  • SPRYD7:SPRY domain containing 7 [Gene - OMIM - HGNC]
  • SUPT20H:SPT20 homolog, SAGA complex component [Gene - OMIM - HGNC]
  • STARD13:StAR related lipid transfer domain containing 13 [Gene - OMIM - HGNC]
  • TNFSF11:TNF superfamily member 11 [Gene - OMIM - HGNC]
  • TSC22D1:TSC22 domain family member 1 [Gene - OMIM - HGNC]
  • UTP14C:UTP14C small subunit processome component [Gene - OMIM - HGNC]
  • WDFY2:WD repeat and FYVE domain containing 2 [Gene - OMIM - HGNC]
  • WBP4:WW domain binding protein 4 [Gene - OMIM - HGNC]
  • CAB39L:calcium binding protein 39 like [Gene - OMIM - HGNC]
  • CPB2:carboxypeptidase B2 [Gene - OMIM - HGNC]
  • CSNK1A1L:casein kinase 1 alpha 1 like [Gene - HGNC]
  • CBY2:chibby family member 2 [Gene - OMIM - HGNC]
  • CNMD:chondromodulin [Gene - OMIM - HGNC]
  • CCDC122:coiled-coil domain containing 122 [Gene - OMIM - HGNC]
  • CCDC169:coiled-coil domain containing 169 [Gene - HGNC]
  • CCDC70:coiled-coil domain containing 70 [Gene - HGNC]
  • COG3:component of oligomeric golgi complex 3 [Gene - OMIM - HGNC]
  • COG6:component of oligomeric golgi complex 6 [Gene - OMIM - HGNC]
  • CCNA1:cyclin A1 [Gene - OMIM - HGNC]
  • CYSLTR2:cysteinyl leukotriene receptor 2 [Gene - OMIM - HGNC]
  • CDADC1:cytidine and dCMP deaminase domain containing 1 [Gene - OMIM - HGNC]
  • CKAP2:cytoskeleton associated protein 2 [Gene - OMIM - HGNC]
  • DHRS12:dehydrogenase/reductase 12 [Gene - OMIM - HGNC]
  • DLEU1:deleted in lymphocytic leukemia 1 [Gene - OMIM - HGNC]
  • DLEU2:deleted in lymphocytic leukemia 2 [Gene - OMIM - HGNC]
  • DLEU7:deleted in lymphocytic leukemia 7 [Gene - OMIM - HGNC]
  • DGKH:diacylglycerol kinase eta [Gene - OMIM - HGNC]
  • DIAPH3:diaphanous related formin 3 [Gene - OMIM - HGNC]
  • DCLK1:doublecortin like kinase 1 [Gene - OMIM - HGNC]
  • ENOX1:ecto-NOX disulfide-thiol exchanger 1 [Gene - OMIM - HGNC]
  • EPSTI1:epithelial stromal interaction 1 [Gene - OMIM - HGNC]
  • ESD:esterase D [Gene - OMIM - HGNC]
  • EXOSC8:exosome component 8 [Gene - OMIM - HGNC]
  • FAM124A:family with sequence similarity 124 member A [Gene - HGNC]
  • FAM216B:family with sequence similarity 216 member B [Gene - HGNC]
  • FNDC3A:fibronectin type III domain containing 3A [Gene - OMIM - HGNC]
  • FOXO1:forkhead box O1 [Gene - OMIM - HGNC]
  • GTF2F2:general transcription factor IIF subunit 2 [Gene - OMIM - HGNC]
  • ERICH6B:glutamate rich 6B [Gene - HGNC]
  • HNRNPA1L2:heterogeneous nuclear ribonucleoprotein A1 like 2 [Gene - HGNC]
  • ITM2B:integral membrane protein 2B [Gene - OMIM - HGNC]
  • INTS6:integrator complex subunit 6 [Gene - OMIM - HGNC]
  • KPNA3:karyopherin subunit alpha 3 [Gene - OMIM - HGNC]
  • KBTBD6:kelch repeat and BTB domain containing 6 [Gene - OMIM - HGNC]
  • KBTBD7:kelch repeat and BTB domain containing 7 [Gene - OMIM - HGNC]
  • KL:klotho [Gene - OMIM - HGNC]
  • LACC1:laccase domain containing 1 [Gene - OMIM - HGNC]
  • LRRC63:leucine rich repeat containing 63 [Gene - HGNC]
  • LRCH1:leucine rich repeats and calponin homology domain containing 1 [Gene - OMIM - HGNC]
  • LINC00558:long intergenic non-protein coding RNA 558 [Gene - HGNC]
  • LCP1:lymphocyte cytosolic protein 1 [Gene - OMIM - HGNC]
  • LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]
  • MAB21L1:mab-21 like 1 [Gene - OMIM - HGNC]
  • MED4:mediator complex subunit 4 [Gene - OMIM - HGNC]
  • MIR15A:microRNA 15a [Gene - OMIM - HGNC]
  • MIR16-1:microRNA 16-1 [Gene - OMIM - HGNC]
  • MRPS31:mitochondrial ribosomal protein S31 [Gene - OMIM - HGNC]
  • MTRF1:mitochondrial translation release factor 1 [Gene - OMIM - HGNC]
  • MLNR:motilin receptor [Gene - OMIM - HGNC]
  • NBEA:neurobeachin [Gene - OMIM - HGNC]
  • NUFIP1:nuclear FMR1 interacting protein 1 [Gene - OMIM - HGNC]
  • NUDT15:nudix hydrolase 15 [Gene - OMIM - HGNC]
  • OLFM4:olfactomedin 4 [Gene - OMIM - HGNC]
  • POSTN:periostin [Gene - OMIM - HGNC]
  • KCNRG:potassium channel regulator [Gene - OMIM - HGNC]
  • KCTD4:potassium channel tetramerization domain containing 4 [Gene - OMIM - HGNC]
  • PROSER1:proline and serine rich 1 [Gene - OMIM - HGNC]
  • PRR20A:proline rich 20A [Gene - HGNC]
  • PRR20B:proline rich 20B [Gene - HGNC]
  • PRR20C:proline rich 20C [Gene - HGNC]
  • PRR20D:proline rich 20D [Gene - HGNC]
  • PRR20E:proline rich 20E [Gene - HGNC]
  • PCDH17:protocadherin 17 [Gene - OMIM - HGNC]
  • PCDH20:protocadherin 20 [Gene - OMIM - HGNC]
  • PCDH8:protocadherin 8 [Gene - OMIM - HGNC]
  • RGCC:regulator of cell cycle [Gene - OMIM - HGNC]
  • RFXAP:regulatory factor X associated protein [Gene - OMIM - HGNC]
  • RFC3:replication factor C subunit 3 [Gene - OMIM - HGNC]
  • RNASEH2B:ribonuclease H2 subunit B [Gene - OMIM - HGNC]
  • RUBCNL:rubicon like autophagy enhancer [Gene - OMIM - HGNC]
  • SERTM1:serine rich and transmembrane domain containing 1 [Gene - HGNC]
  • SERPINE3:serpin family E member 3 [Gene - HGNC]
  • SIAH3:siah E3 ubiquitin protein ligase family member 3 [Gene - OMIM - HGNC]
  • SMIM2:small integral membrane protein 2 [Gene - HGNC]
  • SLC25A15:solute carrier family 25 member 15 [Gene - OMIM - HGNC]
  • SLC25A30:solute carrier family 25 member 30 [Gene - OMIM - HGNC]
  • SPART:spartin [Gene - OMIM - HGNC]
  • SOHLH2:spermatogenesis and oogenesis specific basic helix-loop-helix 2 [Gene - OMIM - HGNC]
  • STOML3:stomatin like 3 [Gene - OMIM - HGNC]
  • SERP2:stress associated endoplasmic reticulum protein family member 2 [Gene - HGNC]
  • SUCLA2:succinate-CoA ligase ADP-forming subunit beta [Gene - OMIM - HGNC]
  • THSD1:thrombospondin type 1 domain containing 1 [Gene - OMIM - HGNC]
  • TRPC4:transient receptor potential cation channel subfamily C member 4 [Gene - OMIM - HGNC]
  • TRIM13:tripartite motif containing 13 [Gene - OMIM - HGNC]
  • TDRD3:tudor domain containing 3 [Gene - OMIM - HGNC]
  • TPT1:tumor protein, translationally-controlled 1 [Gene - OMIM - HGNC]
  • UFM1:ubiquitin fold modifier 1 [Gene - OMIM - HGNC]
  • VPS36:vacuolar protein sorting 36 homolog [Gene - OMIM - HGNC]
  • VWA8:von Willebrand factor A domain containing 8 [Gene - OMIM - HGNC]
  • ZC3H13:zinc finger CCCH-type containing 13 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
13q13.1-21.31
Genomic location:
Chr13: 32946120 - 62698217 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)
HGVS:
NC_000013.10:g.(?_32946120)_(62698217_?)del
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002319482ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)		Pathogenic
(Mar 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002319482.1

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

Last Updated: Sep 1, 2024