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GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2010
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:
RCV000136054.5

Allele description

GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)x3

Genes:
  • LOC129934845:ATAC-STARR-seq lymphoblastoid active region 16582 [Gene]
  • LOC129934846:ATAC-STARR-seq lymphoblastoid active region 16583 [Gene]
  • LOC129934848:ATAC-STARR-seq lymphoblastoid active region 16584 [Gene]
  • LOC129934849:ATAC-STARR-seq lymphoblastoid active region 16585 [Gene]
  • LOC129934850:ATAC-STARR-seq lymphoblastoid active region 16586 [Gene]
  • LOC129934851:ATAC-STARR-seq lymphoblastoid active region 16587 [Gene]
  • LOC129934852:ATAC-STARR-seq lymphoblastoid active region 16588 [Gene]
  • LOC129934853:ATAC-STARR-seq lymphoblastoid active region 16589 [Gene]
  • LOC129934854:ATAC-STARR-seq lymphoblastoid active region 16590 [Gene]
  • LOC129934855:ATAC-STARR-seq lymphoblastoid active region 16591 [Gene]
  • LOC129934856:ATAC-STARR-seq lymphoblastoid active region 16592 [Gene]
  • LOC129934857:ATAC-STARR-seq lymphoblastoid active region 16593 [Gene]
  • LOC129934860:ATAC-STARR-seq lymphoblastoid active region 16594 [Gene]
  • LOC129934861:ATAC-STARR-seq lymphoblastoid active region 16595 [Gene]
  • LOC129934862:ATAC-STARR-seq lymphoblastoid active region 16596 [Gene]
  • LOC129934864:ATAC-STARR-seq lymphoblastoid active region 16597 [Gene]
  • LOC129934847:ATAC-STARR-seq lymphoblastoid silent region 11985 [Gene]
  • LOC129934858:ATAC-STARR-seq lymphoblastoid silent region 11986 [Gene]
  • LOC129934859:ATAC-STARR-seq lymphoblastoid silent region 11987 [Gene]
  • LOC129934863:ATAC-STARR-seq lymphoblastoid silent region 11988 [Gene]
  • LOC126806360:BRD4-independent group 4 enhancer GRCh37_chr2:142888453-142889652 [Gene]
  • CXCR4:C-X-C motif chemokine receptor 4 [Gene - OMIM - HGNC]
  • LOC126806354:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:136993310-136994509 [Gene]
  • LOC126806357:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:139879874-139881073 [Gene]
  • LRP1B:LDL receptor related protein 1B [Gene - OMIM - HGNC]
  • LOC126806358:MED14-independent group 3 enhancer GRCh37_chr2:141554981-141556180 [Gene]
  • LOC129388924:MPRA-validated peak3883 silencer [Gene]
  • LOC129388925:MPRA-validated peak3885 silencer [Gene]
  • LOC129388926:MPRA-validated peak3886 silencer [Gene]
  • LOC129388927:MPRA-validated peak3887 silencer [Gene]
  • LOC126806355:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:139024168-139025367 [Gene]
  • LOC126806356:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:139401763-139402962 [Gene]
  • LOC126806359:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:141651395-141652594 [Gene]
  • SPOPL-DT:SPOPL divergent transcript [Gene - HGNC]
  • LOC121725104:Sharpr-MPRA regulatory region 11055 [Gene]
  • LOC122819160:Sharpr-MPRA regulatory region 14513 [Gene]
  • LOC122819162:Sharpr-MPRA regulatory region 15192 [Gene]
  • LOC122819161:Sharpr-MPRA regulatory region 1885 [Gene]
  • HNMT:histamine N-methyltransferase [Gene - OMIM - HGNC]
  • LINC01832:long intergenic non-protein coding RNA 1832 [Gene - HGNC]
  • LINC01853:long intergenic non-protein coding RNA 1853 [Gene - HGNC]
  • LINC02631:long intergenic non-protein coding RNA 2631 [Gene - HGNC]
  • MIR7157:microRNA 7157 [Gene - HGNC]
  • NXPH2:neurexophilin 2 [Gene - OMIM - HGNC]
  • SPOPL:speckle type BTB/POZ protein like [Gene - HGNC]
  • THSD7B:thrombospondin type 1 domain containing 7B [Gene - HGNC]
  • LOC101928273:uncharacterized LOC101928273 [Gene]
  • LOC105373643:uncharacterized LOC105373643 [Gene]
Variant type:
copy number gain
Cytogenetic location:
2q21.3-22.2
Genomic location:
Preferred name:
GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)x3
HGVS:
  • NC_000002.12:g.(?_136045480)_(142845159_?)dup
  • NC_000002.10:g.(?_136519520)_(143319198_?)dup
  • NC_000002.11:g.(?_136803050)_(143602728_?)dup
Links:
dbVar: nssv706887; dbVar: nsv533350
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
SCV000176092ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Nov 30, 2010) 		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

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 4, SCV000176092.3

#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