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GRCh38/hg38 20p13(chr20:2526755-3081651)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 2013
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:
RCV000143472.5

Allele description

GRCh38/hg38 20p13(chr20:2526755-3081651)x3

Genes:
  • LOC130065309:ATAC-STARR-seq lymphoblastoid active region 17470 [Gene]
  • LOC130065312:ATAC-STARR-seq lymphoblastoid active region 17471 [Gene]
  • LOC130065314:ATAC-STARR-seq lymphoblastoid active region 17472 [Gene]
  • LOC130065315:ATAC-STARR-seq lymphoblastoid active region 17473 [Gene]
  • LOC130065316:ATAC-STARR-seq lymphoblastoid active region 17474 [Gene]
  • LOC130065318:ATAC-STARR-seq lymphoblastoid active region 17475 [Gene]
  • LOC130065308:ATAC-STARR-seq lymphoblastoid silent region 12604 [Gene]
  • LOC130065310:ATAC-STARR-seq lymphoblastoid silent region 12605 [Gene]
  • LOC130065311:ATAC-STARR-seq lymphoblastoid silent region 12606 [Gene]
  • LOC130065313:ATAC-STARR-seq lymphoblastoid silent region 12607 [Gene]
  • LOC130065317:ATAC-STARR-seq lymphoblastoid silent region 12612 [Gene]
  • LOC130065319:ATAC-STARR-seq lymphoblastoid silent region 12613 [Gene]
  • LOC126862954:BRD4-independent group 4 enhancer GRCh37_chr20:3007535-3008734 [Gene]
  • LOC116286200:CRISPRi-validated cis-regulatory element chr20.196 [Gene]
  • LOC116286201:CRISPRi-validated cis-regulatory element chr20.213 [Gene]
  • EBF4:EBF family member 4 [Gene - OMIM - HGNC]
  • IDH3B-DT:IDH3B divergent transcript [Gene - HGNC]
  • LOC129391150:MPRA-validated peak4124 silencer [Gene]
  • LOC109504727:NOP56 ribonucleoprotein repeat instability region [Gene]
  • NOP56:NOP56 ribonucleoprotein [Gene - OMIM - HGNC]
  • LOC132090572:Neanderthal introgressed variant-containing enhancer experimental_60029 [Gene]
  • PCED1A:PC-esterase domain containing 1A [Gene - HGNC]
  • LOC125384564:Sharpr-MPRA regulatory region 1396 [Gene]
  • LOC125384563:Sharpr-MPRA regulatory region 9456 [Gene]
  • LOC110120914:VISTA enhancer hs632 [Gene]
  • VPS16:VPS16 core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • CPXM1:carboxypeptidase X, M14 family member 1 [Gene - OMIM - HGNC]
  • C20orf141:chromosome 20 open reading frame 141 [Gene - HGNC]
  • GNRH2:gonadotropin releasing hormone 2 [Gene - OMIM - HGNC]
  • IDH3B:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta [Gene - OMIM - HGNC]
  • MIR1292:microRNA 1292 [Gene - OMIM - HGNC]
  • MRPS26:mitochondrial ribosomal protein S26 [Gene - OMIM - HGNC]
  • OXT:oxytocin/neurophysin I prepropeptide [Gene - OMIM - HGNC]
  • PTPRA:protein tyrosine phosphatase receptor type A [Gene - OMIM - HGNC]
  • SNORD110:small nucleolar RNA, C/D box 110 [Gene - HGNC]
  • SNORD56:small nucleolar RNA, C/D box 56 [Gene - HGNC]
  • SNORD57:small nucleolar RNA, C/D box 57 [Gene - HGNC]
  • SNORD86:small nucleolar RNA, C/D box 86 [Gene - HGNC]
  • SNORA51:small nucleolar RNA, H/ACA box 51 [Gene - HGNC]
  • TMC2:transmembrane channel like 2 [Gene - OMIM - HGNC]
  • TMEM239:transmembrane protein 239 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
20p13
Genomic location:
Preferred name:
GRCh38/hg38 20p13(chr20:2526755-3081651)x3
HGVS:
  • NC_000020.11:g.(?_2526755)_(3081651_?)dup
  • NC_000020.10:g.(?_2507401)_(3062297_?)dup
Links:
dbVar: nssv3397042; dbVar: nsv995458
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
SCV000182882ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 27, 2013) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humanpaternalyes1not 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, SCV000182882.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023