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GRCh38/hg38 2p21(chr2:46592232-47488001)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 3, 2011
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:
RCV000137575.6

Allele description [Variation Report for GRCh38/hg38 2p21(chr2:46592232-47488001)x3]

GRCh38/hg38 2p21(chr2:46592232-47488001)x3

Genes:
  • LOC129933670:ATAC-STARR-seq lymphoblastoid active region 15715 [Gene]
  • LOC129933678:ATAC-STARR-seq lymphoblastoid active region 15716 [Gene]
  • LOC129933679:ATAC-STARR-seq lymphoblastoid active region 15717 [Gene]
  • LOC129933680:ATAC-STARR-seq lymphoblastoid active region 15718 [Gene]
  • LOC129933681:ATAC-STARR-seq lymphoblastoid active region 15719 [Gene]
  • LOC129933682:ATAC-STARR-seq lymphoblastoid active region 15720 [Gene]
  • LOC129933683:ATAC-STARR-seq lymphoblastoid active region 15721 [Gene]
  • LOC129933684:ATAC-STARR-seq lymphoblastoid active region 15722 [Gene]
  • LOC129933685:ATAC-STARR-seq lymphoblastoid active region 15724 [Gene]
  • LOC129933686:ATAC-STARR-seq lymphoblastoid active region 15725 [Gene]
  • LOC129933687:ATAC-STARR-seq lymphoblastoid active region 15726 [Gene]
  • LOC129933688:ATAC-STARR-seq lymphoblastoid active region 15727 [Gene]
  • LOC129933690:ATAC-STARR-seq lymphoblastoid active region 15728 [Gene]
  • LOC129933691:ATAC-STARR-seq lymphoblastoid active region 15729 [Gene]
  • LOC129933692:ATAC-STARR-seq lymphoblastoid active region 15730 [Gene]
  • LOC129933694:ATAC-STARR-seq lymphoblastoid active region 15731 [Gene]
  • LOC129933695:ATAC-STARR-seq lymphoblastoid active region 15732 [Gene]
  • LOC129933671:ATAC-STARR-seq lymphoblastoid silent region 11452 [Gene]
  • LOC129933672:ATAC-STARR-seq lymphoblastoid silent region 11453 [Gene]
  • LOC129933673:ATAC-STARR-seq lymphoblastoid silent region 11454 [Gene]
  • LOC129933674:ATAC-STARR-seq lymphoblastoid silent region 11456 [Gene]
  • LOC129933675:ATAC-STARR-seq lymphoblastoid silent region 11457 [Gene]
  • LOC129933676:ATAC-STARR-seq lymphoblastoid silent region 11458 [Gene]
  • LOC129933677:ATAC-STARR-seq lymphoblastoid silent region 11459 [Gene]
  • LOC129933689:ATAC-STARR-seq lymphoblastoid silent region 11462 [Gene]
  • LOC129933693:ATAC-STARR-seq lymphoblastoid silent region 11463 [Gene]
  • LOC126806212:BRD4-independent group 4 enhancer GRCh37_chr2:47260876-47262075 [Gene]
  • LOC126806211:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:47201305-47202504 [Gene]
  • CRIPT:CXXC repeat containing interactor of PDZ3 domain [Gene - OMIM - HGNC]
  • EPCAM-DT:EPCAM divergent transcript [Gene - HGNC]
  • LOC126806213:MED14-independent group 3 enhancer GRCh37_chr2:47316060-47317259 [Gene]
  • LOC129388860:MPRA-validated peak3693 silencer [Gene]
  • LOC120961755:Sharpr-MPRA regulatory region 12385 [Gene]
  • LOC112840941:Sharpr-MPRA regulatory region 12526 [Gene]
  • LOC111776220:Sharpr-MPRA regulatory region 1272/3994 [Gene]
  • LOC122757936:Sharpr-MPRA regulatory region 14701 [Gene]
  • LOC120961753:Sharpr-MPRA regulatory region 15480 [Gene]
  • LOC114004372:Sharpr-MPRA regulatory region 1814 [Gene]
  • LOC112840942:Sharpr-MPRA regulatory region 4552 [Gene]
  • LOC122757937:Sharpr-MPRA regulatory region 4700 [Gene]
  • LOC120961752:Sharpr-MPRA regulatory region 6790 [Gene]
  • LOC120961754:Sharpr-MPRA regulatory regions 1090 and 15339 [Gene]
  • LOC110121235:VISTA enhancer hs1967 [Gene]
  • BCYRN1:brain cytoplasmic RNA 1 [Gene - OMIM - HGNC]
  • CALM2:calmodulin 2 [Gene - OMIM - HGNC]
  • EPCAM:epithelial cell adhesion molecule [Gene - OMIM - HGNC]
  • LINC01118:long intergenic non-protein coding RNA 1118 [Gene - HGNC]
  • LINC01119:long intergenic non-protein coding RNA 1119 [Gene - HGNC]
  • MIR559:microRNA 559 [Gene - HGNC]
  • MCFD2:multiple coagulation factor deficiency 2, ER cargo receptor complex subunit [Gene - OMIM - HGNC]
  • MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
  • PIGF:phosphatidylinositol glycan anchor biosynthesis class F [Gene - OMIM - HGNC]
  • STPG4:sperm-tail PG-rich repeat containing 4 [Gene - HGNC]
  • SOCS5:suppressor of cytokine signaling 5 [Gene - OMIM - HGNC]
  • TTC7A:tetratricopeptide repeat domain 7A [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2p21
Genomic location:
Preferred name:
GRCh38/hg38 2p21(chr2:46592232-47488001)x3
HGVS:
  • NC_000002.12:g.(?_46592232)_(47488001_?)dup
  • NC_000002.10:g.(?_46672875)_(47568644_?)dup
  • NC_000002.11:g.(?_46819371)_(47715140_?)dup
Links:
dbVar: nssv1415474; dbVar: nsv817517
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
SCV000177805ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Jun 3, 2011) 		unknownclinical 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

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, SCV000177805.4

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

Last Updated: May 7, 2024