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GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 5, 2012
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:
RCV000138183.4

Allele description [Variation Report for GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4]

GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4

Genes:
  • LOC130065605:ATAC-STARR-seq lymphoblastoid active region 17686 [Gene]
  • LOC130065607:ATAC-STARR-seq lymphoblastoid active region 17690 [Gene]
  • LOC130065608:ATAC-STARR-seq lymphoblastoid active region 17691 [Gene]
  • LOC130065609:ATAC-STARR-seq lymphoblastoid active region 17692 [Gene]
  • LOC130065610:ATAC-STARR-seq lymphoblastoid active region 17693 [Gene]
  • LOC130065611:ATAC-STARR-seq lymphoblastoid active region 17694 [Gene]
  • LOC130065613:ATAC-STARR-seq lymphoblastoid active region 17695 [Gene]
  • LOC130065614:ATAC-STARR-seq lymphoblastoid active region 17698 [Gene]
  • LOC130065615:ATAC-STARR-seq lymphoblastoid active region 17699 [Gene]
  • LOC130065616:ATAC-STARR-seq lymphoblastoid active region 17700 [Gene]
  • LOC130065618:ATAC-STARR-seq lymphoblastoid active region 17701 [Gene]
  • LOC130065624:ATAC-STARR-seq lymphoblastoid active region 17702 [Gene]
  • LOC130065625:ATAC-STARR-seq lymphoblastoid active region 17703 [Gene]
  • LOC130065626:ATAC-STARR-seq lymphoblastoid active region 17704 [Gene]
  • LOC130065603:ATAC-STARR-seq lymphoblastoid silent region 12756 [Gene]
  • LOC130065604:ATAC-STARR-seq lymphoblastoid silent region 12757 [Gene]
  • LOC130065606:ATAC-STARR-seq lymphoblastoid silent region 12759 [Gene]
  • LOC130065612:ATAC-STARR-seq lymphoblastoid silent region 12761 [Gene]
  • LOC130065617:ATAC-STARR-seq lymphoblastoid silent region 12765 [Gene]
  • LOC130065619:ATAC-STARR-seq lymphoblastoid silent region 12766 [Gene]
  • LOC130065620:ATAC-STARR-seq lymphoblastoid silent region 12767 [Gene]
  • LOC130065621:ATAC-STARR-seq lymphoblastoid silent region 12768 [Gene]
  • LOC130065622:ATAC-STARR-seq lymphoblastoid silent region 12769 [Gene]
  • LOC130065623:ATAC-STARR-seq lymphoblastoid silent region 12770 [Gene]
  • BCL2L1:BCL2 like 1 [Gene - OMIM - HGNC]
  • BCL2L1-AS1:BCL2L1 antisense RNA 1 [Gene - HGNC]
  • LOC126863010:BRD4-independent group 4 enhancer GRCh37_chr20:30134937-30136136 [Gene]
  • CCM2L:CCM2 like scaffold protein [Gene - HGNC]
  • LOC116286204:CRISPRi-validated cis-regulatory element chr20.845 [Gene]
  • LOC116286205:CRISPRi-validated cis-regulatory element chr20.846 [Gene]
  • HM13-AS1:HM13 antisense RNA 1 [Gene - HGNC]
  • MCTS2:MCTS family member 2 [Gene - OMIM - HGNC]
  • LOC129391163:MPRA-validated peak4184 silencer [Gene]
  • LOC129391164:MPRA-validated peak4185 silencer [Gene]
  • LOC126863011:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:30148388-30149587 [Gene]
  • REM1:RRAD and GEM like GTPase 1 [Gene - OMIM - HGNC]
  • LOC125387254:Sharpr-MPRA regulatory region 11771 [Gene]
  • LOC125387253:Sharpr-MPRA regulatory region 14532 [Gene]
  • LOC112694700:Sharpr-MPRA regulatory region 251 [Gene]
  • LOC121853002:Sharpr-MPRA regulatory region 4727 [Gene]
  • LOC112694701:Sharpr-MPRA regulatory region 918 [Gene]
  • LOC125387249:Sharpr-MPRA regulatory region 9809 [Gene]
  • TPX2:TPX2 microtubule nucleation factor [Gene - OMIM - HGNC]
  • LOC110121477:VISTA enhancer hs2050 [Gene]
  • LOC110120877:VISTA enhancer hs480 [Gene]
  • XKR7:XK related 7 [Gene - HGNC]
  • ABALON:apoptotic BCL2L1-antisense long non-coding RNA [Gene - OMIM - 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]
  • FOXS1:forkhead box S1 [Gene - OMIM - HGNC]
  • HM13:histocompatibility minor 13 [Gene - OMIM - HGNC]
  • ID1:inhibitor of DNA binding 1 [Gene - OMIM - HGNC]
  • LINC00028:long intergenic non-protein coding RNA 28 [Gene - HGNC]
  • MIR3193:microRNA 3193 [Gene - HGNC]
  • MYLK2:myosin light chain kinase 2 [Gene - OMIM - HGNC]
  • PDRG1:p53 and DNA damage regulated 1 [Gene - OMIM - HGNC]
  • TTLL9:tubulin tyrosine ligase like 9 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
20q11.21
Genomic location:
Preferred name:
GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4
HGVS:
  • NC_000020.11:g.(?_31245583)_(32017285_?)dup
  • NC_000020.10:g.(?_29833386)_(30605088_?)dup
  • NC_000020.9:g.(?_29297047)_(30068749_?)dup
Links:
dbVar: nssv1495564; dbVar: nsv869384
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
SCV000178450ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Apr 5, 2012) 		de novoclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000178450.4

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

Last Updated: Oct 14, 2023