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GRCh38/hg38 20p13(chr20:121781-2290194)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
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:
RCV000052738.5

Allele description [Variation Report for GRCh38/hg38 20p13(chr20:121781-2290194)x1]

GRCh38/hg38 20p13(chr20:121781-2290194)x1

Genes:
  • LOC130065248:ATAC-STARR-seq lymphoblastoid active region 17432 [Gene]
  • LOC130065249:ATAC-STARR-seq lymphoblastoid active region 17433 [Gene]
  • LOC130065252:ATAC-STARR-seq lymphoblastoid active region 17434 [Gene]
  • LOC130065253:ATAC-STARR-seq lymphoblastoid active region 17435 [Gene]
  • LOC130065267:ATAC-STARR-seq lymphoblastoid active region 17440 [Gene]
  • LOC130065269:ATAC-STARR-seq lymphoblastoid active region 17444 [Gene]
  • LOC130065275:ATAC-STARR-seq lymphoblastoid active region 17445 [Gene]
  • LOC130065277:ATAC-STARR-seq lymphoblastoid active region 17446 [Gene]
  • LOC130065278:ATAC-STARR-seq lymphoblastoid active region 17447 [Gene]
  • LOC130065279:ATAC-STARR-seq lymphoblastoid active region 17448 [Gene]
  • LOC130065280:ATAC-STARR-seq lymphoblastoid active region 17449 [Gene]
  • LOC130065282:ATAC-STARR-seq lymphoblastoid active region 17450 [Gene]
  • LOC130065283:ATAC-STARR-seq lymphoblastoid active region 17455 [Gene]
  • LOC130065285:ATAC-STARR-seq lymphoblastoid active region 17456 [Gene]
  • LOC130065288:ATAC-STARR-seq lymphoblastoid active region 17457 [Gene]
  • LOC130065291:ATAC-STARR-seq lymphoblastoid active region 17458 [Gene]
  • LOC130065293:ATAC-STARR-seq lymphoblastoid active region 17460 [Gene]
  • LOC130065297:ATAC-STARR-seq lymphoblastoid active region 17462 [Gene]
  • LOC130065250:ATAC-STARR-seq lymphoblastoid silent region 12560 [Gene]
  • LOC130065251:ATAC-STARR-seq lymphoblastoid silent region 12561 [Gene]
  • LOC130065254:ATAC-STARR-seq lymphoblastoid silent region 12562 [Gene]
  • LOC130065255:ATAC-STARR-seq lymphoblastoid silent region 12563 [Gene]
  • LOC130065256:ATAC-STARR-seq lymphoblastoid silent region 12564 [Gene]
  • LOC130065257:ATAC-STARR-seq lymphoblastoid silent region 12565 [Gene]
  • LOC130065258:ATAC-STARR-seq lymphoblastoid silent region 12566 [Gene]
  • LOC130065259:ATAC-STARR-seq lymphoblastoid silent region 12567 [Gene]
  • LOC130065260:ATAC-STARR-seq lymphoblastoid silent region 12568 [Gene]
  • LOC130065261:ATAC-STARR-seq lymphoblastoid silent region 12572 [Gene]
  • LOC130065262:ATAC-STARR-seq lymphoblastoid silent region 12573 [Gene]
  • LOC130065263:ATAC-STARR-seq lymphoblastoid silent region 12575 [Gene]
  • LOC130065264:ATAC-STARR-seq lymphoblastoid silent region 12576 [Gene]
  • LOC130065265:ATAC-STARR-seq lymphoblastoid silent region 12577 [Gene]
  • LOC130065266:ATAC-STARR-seq lymphoblastoid silent region 12578 [Gene]
  • LOC130065268:ATAC-STARR-seq lymphoblastoid silent region 12579 [Gene]
  • LOC130065270:ATAC-STARR-seq lymphoblastoid silent region 12580 [Gene]
  • LOC130065271:ATAC-STARR-seq lymphoblastoid silent region 12581 [Gene]
  • LOC130065272:ATAC-STARR-seq lymphoblastoid silent region 12582 [Gene]
  • LOC130065273:ATAC-STARR-seq lymphoblastoid silent region 12583 [Gene]
  • LOC130065274:ATAC-STARR-seq lymphoblastoid silent region 12584 [Gene]
  • LOC130065276:ATAC-STARR-seq lymphoblastoid silent region 12585 [Gene]
  • LOC130065281:ATAC-STARR-seq lymphoblastoid silent region 12586 [Gene]
  • LOC130065284:ATAC-STARR-seq lymphoblastoid silent region 12587 [Gene]
  • LOC130065286:ATAC-STARR-seq lymphoblastoid silent region 12588 [Gene]
  • LOC130065287:ATAC-STARR-seq lymphoblastoid silent region 12589 [Gene]
  • LOC130065289:ATAC-STARR-seq lymphoblastoid silent region 12592 [Gene]
  • LOC130065290:ATAC-STARR-seq lymphoblastoid silent region 12593 [Gene]
  • LOC130065292:ATAC-STARR-seq lymphoblastoid silent region 12594 [Gene]
  • LOC130065294:ATAC-STARR-seq lymphoblastoid silent region 12595 [Gene]
  • LOC130065295:ATAC-STARR-seq lymphoblastoid silent region 12596 [Gene]
  • LOC130065296:ATAC-STARR-seq lymphoblastoid silent region 12597 [Gene]
  • LOC130065298:ATAC-STARR-seq lymphoblastoid silent region 12598 [Gene]
  • LOC130065299:ATAC-STARR-seq lymphoblastoid silent region 12599 [Gene]
  • LOC130065300:ATAC-STARR-seq lymphoblastoid silent region 12600 [Gene]
  • LOC126862951:BRD4-independent group 4 enhancer GRCh37_chr20:1458844-1460043 [Gene]
  • LOC126862952:BRD4-independent group 4 enhancer GRCh37_chr20:1501740-1502939 [Gene]
  • LOC126862948:BRD4-independent group 4 enhancer GRCh37_chr20:596343-597542 [Gene]
  • LOC116286198:CRISPRi-validated cis-regulatory element chr20.29 [Gene]
  • LOC116286199:CRISPRi-validated cis-regulatory element chr20.80 [Gene]
  • FKBP1A:FKBP prolyl isomerase 1A [Gene - OMIM - HGNC]
  • FKBP1A-SDCBP2:FKBP1A-SDCBP2 readthrough (NMD candidate) [Gene - HGNC]
  • LOC126862949:MED14-independent group 3 enhancer GRCh37_chr20:1358033-1359232 [Gene]
  • LOC129391147:MPRA-validated peak4111 silencer [Gene]
  • LOC129391148:MPRA-validated peak4114 silencer [Gene]
  • LOC129391149:MPRA-validated peak4117 silencer [Gene]
  • NRSN2-AS1:NRSN2 antisense RNA 1 [Gene - HGNC]
  • NSFL1C:NSFL1 cofactor [Gene - OMIM - HGNC]
  • LOC126862950:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:1396577-1397776 [Gene]
  • PDYN-AS1:PDYN antisense RNA 1 [Gene - 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]
  • SDCBP2-AS1:SDCBP2 antisense RNA 1 [Gene - HGNC]
  • SIRPG-AS1:SIRPG antisense RNA 1 [Gene - HGNC]
  • SOX12:SRY-box transcription factor 12 [Gene - OMIM - HGNC]
  • LOC125384556:Sharpr-MPRA regulatory region 10349 [Gene]
  • LOC121627890:Sharpr-MPRA regulatory region 10396 [Gene]
  • LOC112694731:Sharpr-MPRA regulatory region 1111 [Gene]
  • LOC125384562:Sharpr-MPRA regulatory region 1230 [Gene]
  • LOC125384557:Sharpr-MPRA regulatory region 12668 [Gene]
  • LOC125384555:Sharpr-MPRA regulatory region 12860 [Gene]
  • LOC121852996:Sharpr-MPRA regulatory region 14258 [Gene]
  • LOC125384559:Sharpr-MPRA regulatory region 14422 [Gene]
  • LOC125384560:Sharpr-MPRA regulatory region 14496 [Gene]
  • LOC113939990:Sharpr-MPRA regulatory region 3766 [Gene]
  • LOC125384558:Sharpr-MPRA regulatory region 5118 [Gene]
  • LOC121852997:Sharpr-MPRA regulatory region 67 [Gene]
  • LOC113939991:Sharpr-MPRA regulatory region 7514 [Gene]
  • LOC121852995:Sharpr-MPRA regulatory region 7859/9812 [Gene]
  • LOC125384561:Sharpr-MPRA regulatory region 9993 [Gene]
  • TBC1D20:TBC1 domain family member 20 [Gene - OMIM - HGNC]
  • ANGPT4:angiopoietin 4 [Gene - OMIM - HGNC]
  • CSNK2A1:casein kinase 2 alpha 1 [Gene - OMIM - HGNC]
  • C20orf202:chromosome 20 open reading frame 202 [Gene - HGNC]
  • C20orf96:chromosome 20 open reading frame 96 [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]
  • FAM110A:family with sequence similarity 110 member A [Gene - OMIM - HGNC]
  • LINC03086:long intergenic non-protein coding RNA 3086 [Gene - HGNC]
  • MIR6869:microRNA 6869 [Gene - HGNC]
  • NRSN2:neurensin 2 [Gene - OMIM - HGNC]
  • PDYN:prodynorphin [Gene - OMIM - HGNC]
  • PSMF1:proteasome inhibitor subunit 1 [Gene - OMIM - HGNC]
  • SCRT2:scratch family transcriptional repressor 2 [Gene - HGNC]
  • STK35:serine/threonine kinase 35 [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]
  • SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]
  • SRXN1:sulfiredoxin 1 [Gene - OMIM - HGNC]
  • SDCBP2:syndecan binding protein 2 [Gene - OMIM - HGNC]
  • SNPH:syntaphilin [Gene - OMIM - HGNC]
  • TCF15:transcription factor 15 [Gene - OMIM - HGNC]
  • TMEM74B:transmembrane protein 74B [Gene - HGNC]
  • TRIB3:tribbles pseudokinase 3 [Gene - OMIM - HGNC]
  • LOC102724545:uncharacterized LOC102724545 [Gene]
  • LOC105372493:uncharacterized LOC105372493 [Gene]
  • ZCCHC3:zinc finger CCHC-type containing 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
20p13
Genomic location:
Preferred name:
GRCh38/hg38 20p13(chr20:121781-2290194)x1
HGVS:
  • NC_000020.11:g.(?_121781)_(2290194_?)del
  • NC_000020.10:g.(?_102422)_(2270840_?)del
  • NC_000020.9:g.(?_50422)_(2218840_?)del
Links:
dbVar: nssv577797; dbVar: nsv531455
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000080092GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000080092.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023