GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2023
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:: RCV003885495.3

Allele description [Variation Report for GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3]

GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3

Genes:

XRN2:5'-3' exoribonuclease 2 [Gene - OMIM - HGNC]
ADAM33:ADAM metallopeptidase domain 33 [Gene - OMIM - HGNC]
BANF2:BANF family member 2 [Gene - HGNC]
BTBD3:BTB domain containing 3 [Gene - OMIM - HGNC]
CD93:CD93 molecule [Gene - OMIM - HGNC]
CDS2:CDP-diacylglycerol synthase 2 [Gene - OMIM - HGNC]
DTD1:D-aminoacyl-tRNA deacylase 1 [Gene - OMIM - HGNC]
DDRGK1:DDRGK domain containing 1 [Gene - OMIM - HGNC]
EBF4:EBF family member 4 [Gene - OMIM - HGNC]
ESF1:ESF1 nucleolar pre-rRNA processing protein homolog [Gene - OMIM - HGNC]
FASTKD5:FAST kinase domains 5 [Gene - OMIM - HGNC]
FERMT1:FERM domain containing kindlin 1 [Gene - OMIM - HGNC]
FKBP1A:FKBP prolyl isomerase 1A [Gene - OMIM - HGNC]
GFRA4:GDNF family receptor alpha 4 [Gene - OMIM - HGNC]
GZF1:GDNF inducible zinc finger protein 1 [Gene - OMIM - HGNC]
INSM1:INSM transcriptional repressor 1 [Gene - OMIM - HGNC]
MKKS:MKKS centrosomal shuttling protein [Gene - OMIM - HGNC]
NAA20:N-alpha-acetyltransferase 20, NatB catalytic subunit [Gene - OMIM - HGNC]
NDUFAF5:NADH:ubiquinone oxidoreductase complex assembly factor 5 [Gene - OMIM - HGNC]
NKX2-2:NK2 homeobox 2 [Gene - OMIM - HGNC]
NKX2-4:NK2 homeobox 4 [Gene - OMIM - HGNC]
NOP56:NOP56 ribonucleoprotein [Gene - OMIM - HGNC]
NAPB:NSF attachment protein beta [Gene - OMIM - HGNC]
NSFL1C:NSFL1 cofactor [Gene - OMIM - HGNC]
PCED1A:PC-esterase domain containing 1A [Gene - HGNC]
PCNA-AS1:PCNA antisense RNA 1 [Gene - HGNC]
PET117:PET117 cytochrome c oxidase chaperone [Gene - OMIM - HGNC]
RSPO4:R-spondin 4 [Gene - OMIM - HGNC]
RAD21L1:RAD21 cohesin complex component like 1 [Gene - OMIM - HGNC]
RBCK1:RANBP2-type and C3HC4-type zinc finger containing 1 [Gene - OMIM - HGNC]
RBBP9:RB binding protein 9, serine hydrolase [Gene - OMIM - HGNC]
POLR3F:RNA polymerase III subunit F [Gene - OMIM - HGNC]
RALGAPA2:Ral GTPase activating protein catalytic subunit alpha 2 [Gene - OMIM - HGNC]
RIN2:Ras and Rab interactor 2 [Gene - OMIM - HGNC]
RASSF2:Ras association domain family member 2 [Gene - OMIM - HGNC]
SCP2D1:SCP2 sterol binding domain containing 1 [Gene - HGNC]
SCP2D1-AS1:SCP2D1 antisense RNA 1 [Gene - HGNC]
SEC23B:SEC23 homolog B, COPII coat complex component [Gene - OMIM - HGNC]
SEL1L2:SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase [Gene - OMIM - HGNC]
SLX4IP:SLX4 interacting protein [Gene - OMIM - HGNC]
SOX12:SRY-box transcription factor 12 [Gene - OMIM - HGNC]
TBC1D20:TBC1 domain family member 20 [Gene - OMIM - HGNC]
UBOX5:U-box domain containing 5 [Gene - OMIM - HGNC]
VPS16:VPS16 core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
AP5S1:adaptor related protein complex 5 subunit sigma 1 [Gene - OMIM - HGNC]
ADISSP:adipose secreted signaling protein [Gene - OMIM - HGNC]
ADRA1D:adrenoceptor alpha 1D [Gene - OMIM - HGNC]
ANGPT4:angiopoietin 4 [Gene - OMIM - HGNC]
ANKEF1:ankyrin repeat and EF-hand domain containing 1 [Gene - HGNC]
AVP:arginine vasopressin [Gene - OMIM - HGNC]
ATRN:attractin [Gene - OMIM - HGNC]
BFSP1:beaded filament structural protein 1 [Gene - OMIM - HGNC]
BMP2:bone morphogenetic protein 2 [Gene - OMIM - HGNC]
CPXM1:carboxypeptidase X, M14 family member 1 [Gene - OMIM - HGNC]
CRLS1:cardiolipin synthase 1 [Gene - OMIM - HGNC]
CSNK2A1:casein kinase 2 alpha 1 [Gene - OMIM - HGNC]
CDC25B:cell division cycle 25B [Gene - OMIM - HGNC]
CENPB:centromere protein B [Gene - OMIM - HGNC]
CHGB:chromogranin B [Gene - OMIM - HGNC]
C20orf141:chromosome 20 open reading frame 141 [Gene - HGNC]
C20orf202:chromosome 20 open reading frame 202 [Gene - HGNC]
C20orf96:chromosome 20 open reading frame 96 [Gene - HGNC]
CFAP61:cilia and flagella associated protein 61 [Gene - OMIM - HGNC]
CRNKL1:crooked neck pre-mRNA splicing factor 1 [Gene - OMIM - HGNC]
CST11:cystatin 11 [Gene - OMIM - HGNC]
CST8:cystatin 8 [Gene - OMIM - HGNC]
CST9L:cystatin 9 like [Gene - OMIM - HGNC]
CST9:cystatin 9 [Gene - OMIM - HGNC]
CST3:cystatin C [Gene - OMIM - HGNC]
CST5:cystatin D [Gene - OMIM - HGNC]
CST4:cystatin S [Gene - OMIM - HGNC]
CST2:cystatin SA [Gene - OMIM - HGNC]
CST1:cystatin SN [Gene - OMIM - HGNC]
CSTL1:cystatin like 1 [Gene - HGNC]
DEFB125:defensin beta 125 [Gene - HGNC]
DEFB126:defensin beta 126 [Gene - OMIM - HGNC]
DEFB127:defensin beta 127 [Gene - HGNC]
DEFB128:defensin beta 128 [Gene - HGNC]
DEFB129:defensin beta 129 [Gene - HGNC]
DEFB132:defensin beta 132 [Gene - HGNC]
DSTN:destrin, actin depolymerizing factor [Gene - OMIM - HGNC]
DZANK1:double zinc ribbon and ankyrin repeat domains 1 [Gene - HGNC]
DNAAF9:dynein axonemal assembly factor 9 [Gene - OMIM - HGNC]
FAM110A:family with sequence similarity 110 member A [Gene - OMIM - HGNC]
FLRT3:fibronectin leucine rich transmembrane protein 3 [Gene - OMIM - HGNC]
FOXA2:forkhead box A2 [Gene - OMIM - HGNC]
GPCPD1:glycerophosphocholine phosphodiesterase 1 [Gene - OMIM - HGNC]
GNRH2:gonadotropin releasing hormone 2 [Gene - OMIM - HGNC]
HSPA12B:heat shock protein family A (Hsp70) member 12B [Gene - OMIM - HGNC]
HAO1:hydroxyacid oxidase 1 [Gene - OMIM - HGNC]
ITPA:inosine triphosphatase [Gene - OMIM - HGNC]
IDH3B:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta [Gene - OMIM - HGNC]
ISM1:isthmin 1 [Gene - OMIM - HGNC]
JAG1:jagged canonical Notch ligand 1 [Gene - OMIM - HGNC]
KIF16B:kinesin family member 16B [Gene - OMIM - HGNC]
KIZ:kizuna centrosomal protein [Gene - OMIM - HGNC]
LRRN4:leucine rich repeat neuronal 4 [Gene - OMIM - HGNC]
LZTS3:leucine zipper tumor suppressor family member 3 [Gene - OMIM - HGNC]
KAT14:lysine acetyltransferase 14 [Gene - OMIM - HGNC]
LAMP5:lysosomal associated membrane protein family member 5 [Gene - OMIM - HGNC]
MIR103A2:microRNA 103a-2 [Gene - OMIM - HGNC]
MIR1292:microRNA 1292 [Gene - OMIM - HGNC]
MCM8:minichromosome maintenance 8 homologous recombination repair factor [Gene - OMIM - HGNC]
MAVS:mitochondrial antiviral signaling protein [Gene - OMIM - HGNC]
MGME1:mitochondrial genome maintenance exonuclease 1 [Gene - OMIM - HGNC]
MRPS26:mitochondrial ribosomal protein S26 [Gene - OMIM - HGNC]
MACROD2:mono-ADP ribosylhydrolase 2 [Gene - OMIM - HGNC]
NRSN2:neurensin 2 [Gene - OMIM - HGNC]
NXT1:nuclear transport factor 2 like export factor 1 [Gene - OMIM - HGNC]
OTOR:otoraplin [Gene - OMIM - HGNC]
OVOL2:ovo like zinc finger 2 [Gene - OMIM - HGNC]
OXT:oxytocin/neurophysin I prepropeptide [Gene - OMIM - HGNC]
PAK5:p21 (RAC1) activated kinase 5 [Gene - OMIM - HGNC]
PAX1:paired box 1 [Gene - OMIM - HGNC]
PANK2:pantothenate kinase 2 [Gene - OMIM - HGNC]
PLCB1:phospholipase C beta 1 [Gene - OMIM - HGNC]
PLCB4:phospholipase C beta 4 [Gene - OMIM - HGNC]
PRND:prion like protein doppel [Gene - OMIM - HGNC]
PRNP:prion protein (Kanno blood group) [Gene - OMIM - HGNC]
PDYN:prodynorphin [Gene - OMIM - HGNC]
PROKR2:prokineticin receptor 2 [Gene - OMIM - HGNC]
PCNA:proliferating cell nuclear antigen [Gene - OMIM - HGNC]
PCSK2:proprotein convertase subtilisin/kexin type 2 [Gene - OMIM - HGNC]
PSMF1:proteasome inhibitor subunit 1 [Gene - OMIM - HGNC]
PTPRA:protein tyrosine phosphatase receptor type A [Gene - OMIM - HGNC]
RRBP1:ribosome binding protein 1 [Gene - OMIM - HGNC]
RNF24:ring finger protein 24 [Gene - OMIM - HGNC]
SCRT2:scratch family transcriptional repressor 2 [Gene - HGNC]
SPTLC3:serine palmitoyltransferase long chain base subunit 3 [Gene - OMIM - HGNC]
STK35:serine/threonine kinase 35 [Gene - OMIM - HGNC]
SHLD1:shieldin complex subunit 1 [Gene - OMIM - HGNC]
SIGLEC1:sialic acid binding Ig like lectin 1 [Gene - OMIM - HGNC]
SIRPA:signal regulatory protein alpha [Gene - OMIM - HGNC]
SIRPB1:signal regulatory protein beta 1 [Gene - OMIM - HGNC]
SIRPB2:signal regulatory protein beta 2 [Gene - HGNC]
SIRPD:signal regulatory protein delta [Gene - HGNC]
SIRPG:signal regulatory protein gamma [Gene - OMIM - HGNC]
SNRPB2:small nuclear ribonucleoprotein polypeptide B2 [Gene - OMIM - HGNC]
SNRPB:small nuclear ribonucleoprotein polypeptides B and B1 [Gene - OMIM - HGNC]
SLC23A2:solute carrier family 23 member 2 [Gene - OMIM - HGNC]
SLC24A3:solute carrier family 24 member 3 [Gene - OMIM - HGNC]
SLC4A11:solute carrier family 4 member 11 [Gene - OMIM - HGNC]
SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]
SSTR4:somatostatin receptor 4 [Gene - OMIM - HGNC]
SNX5:sorting nexin 5 [Gene - OMIM - HGNC]
SPEF1:sperm flagellar 1 [Gene - OMIM - HGNC]
SMOX:spermine oxidase [Gene - OMIM - HGNC]
SRXN1:sulfiredoxin 1 [Gene - OMIM - HGNC]
SNAP25:synaptosome associated protein 25 [Gene - OMIM - HGNC]
SDCBP2:syndecan binding protein 2 [Gene - OMIM - HGNC]
SNPH:syntaphilin [Gene - OMIM - HGNC]
TRMT6:tRNA methyltransferase 6 non-catalytic subunit [Gene - HGNC]
TASP1:taspase 1 [Gene - OMIM - HGNC]
TMX4:thioredoxin related transmembrane protein 4 [Gene - OMIM - HGNC]
THBD:thrombomodulin [Gene - OMIM - HGNC]
TCF15:transcription factor 15 [Gene - OMIM - HGNC]
TGM3:transglutaminase 3 [Gene - OMIM - HGNC]
TGM6:transglutaminase 6 [Gene - OMIM - HGNC]
TMC2:transmembrane channel like 2 [Gene - OMIM - HGNC]
TMEM230:transmembrane protein 230 [Gene - OMIM - HGNC]
TMEM239:transmembrane protein 239 [Gene - HGNC]
TMEM74B:transmembrane protein 74B [Gene - HGNC]
TRIB3:tribbles pseudokinase 3 [Gene - OMIM - HGNC]
ZCCHC3:zinc finger CCHC-type containing 3 [Gene - OMIM - HGNC]
ZNF133:zinc finger protein 133 [Gene - OMIM - HGNC]
ZNF343:zinc finger protein 343 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

20p13-11.21

Genomic location:

Chr20: 68351 - 23860313 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3

HGVS:

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004698278	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Dec 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004698278

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Dec 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004698278.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 12, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 AND not provided

Allele description [Variation Report for GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3]

GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004698278.3