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GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) 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:
RCV002052709.3

Allele description [Variation Report for GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)]

GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)

Genes:
  • ASXL1:ASXL transcriptional regulator 1 [Gene - OMIM - HGNC]
  • BCL2L1:BCL2 like 1 [Gene - OMIM - HGNC]
  • BPIFA1:BPI fold containing family A member 1 [Gene - OMIM - HGNC]
  • BPIFA2:BPI fold containing family A member 2 [Gene - HGNC]
  • BPIFA3:BPI fold containing family A member 3 [Gene - HGNC]
  • BPIFB1:BPI fold containing family B member 1 [Gene - HGNC]
  • BPIFB2:BPI fold containing family B member 2 [Gene - OMIM - HGNC]
  • BPIFB3:BPI fold containing family B member 3 [Gene - OMIM - HGNC]
  • BPIFB4:BPI fold containing family B member 4 [Gene - OMIM - HGNC]
  • BPIFB6:BPI fold containing family B member 6 [Gene - OMIM - HGNC]
  • CBFA2T2:CBFA2/RUNX1 partner transcriptional co-repressor 2 [Gene - OMIM - HGNC]
  • CCM2L:CCM2 like scaffold protein [Gene - HGNC]
  • CDK5RAP1:CDK5 regulatory subunit associated protein 1 [Gene - OMIM - HGNC]
  • COMMD7:COMM domain containing 7 [Gene - OMIM - HGNC]
  • DNMT3B:DNA methyltransferase 3 beta [Gene - OMIM - HGNC]
  • E2F1:E2F transcription factor 1 [Gene - OMIM - HGNC]
  • EFCAB8:EF-hand calcium binding domain 8 [Gene - HGNC]
  • EDEM2:ER degradation enhancing alpha-mannosidase like protein 2 [Gene - OMIM - HGNC]
  • HCK:HCK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • NANP:N-acetylneuraminic acid phosphatase [Gene - OMIM - HGNC]
  • NECAB3:N-terminal EF-hand calcium binding protein 3 [Gene - OMIM - HGNC]
  • PLAGL2:PLAG1 like zinc finger 2 [Gene - OMIM - HGNC]
  • RALY:RALY heterogeneous nuclear ribonucleoprotein [Gene - OMIM - HGNC]
  • REM1:RRAD and GEM like GTPase 1 [Gene - OMIM - HGNC]
  • SUN5:Sad1 and UNC84 domain containing 5 [Gene - OMIM - HGNC]
  • TPX2:TPX2 microtubule nucleation factor [Gene - OMIM - HGNC]
  • XKR7:XK related 7 [Gene - HGNC]
  • ACTL10:actin like 10 [Gene - HGNC]
  • ACSS2:acyl-CoA synthetase short chain family member 2 [Gene - OMIM - HGNC]
  • AHCY:adenosylhomocysteinase [Gene - OMIM - HGNC]
  • ASIP:agouti signaling protein [Gene - OMIM - HGNC]
  • CHMP4B:charged multivesicular body protein 4B [Gene - OMIM - HGNC]
  • C20orf144:chromosome 20 open reading frame 144 [Gene - HGNC]
  • C20orf203:chromosome 20 open reading frame 203 [Gene - HGNC]
  • COX4I2:cytochrome c oxidase subunit 4I2 [Gene - OMIM - HGNC]
  • DEFB115:defensin beta 115 [Gene - HGNC]
  • DEFB116:defensin beta 116 [Gene - HGNC]
  • DEFB118:defensin beta 118 [Gene - OMIM - HGNC]
  • DEFB119:defensin beta 119 [Gene - OMIM - HGNC]
  • DEFB121:defensin beta 121 [Gene - OMIM - HGNC]
  • DEFB123:defensin beta 123 [Gene - OMIM - HGNC]
  • DEFB124:defensin beta 124 [Gene - HGNC]
  • DUSP15:dual specificity phosphatase 15 [Gene - OMIM - HGNC]
  • DYNLRB1:dynein light chain roadblock-type 1 [Gene - OMIM - HGNC]
  • EIF2S2:eukaryotic translation initiation factor 2 subunit beta [Gene - OMIM - HGNC]
  • FOXS1:forkhead box S1 [Gene - OMIM - HGNC]
  • GGT7:gamma-glutamyltransferase 7 [Gene - OMIM - HGNC]
  • GSS:glutathione synthetase [Gene - OMIM - HGNC]
  • HM13:histocompatibility minor 13 [Gene - OMIM - HGNC]
  • ID1:inhibitor of DNA binding 1, HLH protein [Gene - OMIM - HGNC]
  • ITCH:itchy E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • KIF3B:kinesin family member 3B [Gene - OMIM - HGNC]
  • LINC01597:long intergenic non-protein coding RNA 1597 [Gene - HGNC]
  • MIR499A:microRNA 499a [Gene - OMIM - HGNC]
  • MAP1LC3A:microtubule associated protein 1 light chain 3 alpha [Gene - OMIM - HGNC]
  • MAPRE1:microtubule associated protein RP/EB family member 1 [Gene - OMIM - HGNC]
  • MYH7B:myosin heavy chain 7B [Gene - OMIM - HGNC]
  • MYLK2:myosin light chain kinase 2 [Gene - OMIM - HGNC]
  • NINL:ninein like [Gene - OMIM - HGNC]
  • NCOA6:nuclear receptor coactivator 6 [Gene - OMIM - HGNC]
  • NOL4L:nucleolar protein 4 like [Gene - OMIM - HGNC]
  • PDRG1:p53 and DNA damage regulated 1 [Gene - OMIM - HGNC]
  • PXMP4:peroxisomal membrane protein 4 [Gene - OMIM - HGNC]
  • PIGU:phosphatidylinositol glycan anchor biosynthesis class U [Gene - OMIM - HGNC]
  • PROCR:protein C receptor [Gene - OMIM - HGNC]
  • POFUT1:protein O-fucosyltransferase 1 [Gene - OMIM - HGNC]
  • SNTA1:syntrophin alpha 1 [Gene - OMIM - HGNC]
  • TRPC4AP:transient receptor potential cation channel subfamily C member 4 associated protein [Gene - OMIM - HGNC]
  • TM9SF4:transmembrane 9 superfamily member 4 [Gene - OMIM - HGNC]
  • TTLL9:tubulin tyrosine ligase like 9 [Gene - OMIM - HGNC]
  • TP53INP2:tumor protein p53 inducible nuclear protein 2 [Gene - OMIM - HGNC]
  • ZNF337:zinc finger protein 337 [Gene - HGNC]
  • ZNF341:zinc finger protein 341 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
20p11.21-q11.22
Genomic location:
Chr20: 25442597 - 33761550 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002319818ARUP 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

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, SCV002319818.1

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

Last Updated: Aug 15, 2022