GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 27, 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:
RCV000142512.9

Allele description [Variation Report for GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3]

GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3

Genes:
  • LOC129933108:ATAC-STARR-seq lymphoblastoid active region 15312 [Gene]
  • LOC129933109:ATAC-STARR-seq lymphoblastoid active region 15313 [Gene]
  • LOC129933113:ATAC-STARR-seq lymphoblastoid active region 15314 [Gene]
  • LOC129933114:ATAC-STARR-seq lymphoblastoid active region 15315 [Gene]
  • LOC129933115:ATAC-STARR-seq lymphoblastoid active region 15316 [Gene]
  • LOC129933116:ATAC-STARR-seq lymphoblastoid active region 15317 [Gene]
  • LOC129933122:ATAC-STARR-seq lymphoblastoid active region 15318 [Gene]
  • LOC129933123:ATAC-STARR-seq lymphoblastoid active region 15319 [Gene]
  • LOC129933124:ATAC-STARR-seq lymphoblastoid active region 15320 [Gene]
  • LOC129933126:ATAC-STARR-seq lymphoblastoid active region 15321 [Gene]
  • LOC129933128:ATAC-STARR-seq lymphoblastoid active region 15322 [Gene]
  • LOC129933129:ATAC-STARR-seq lymphoblastoid active region 15323 [Gene]
  • LOC129933131:ATAC-STARR-seq lymphoblastoid active region 15324 [Gene]
  • LOC129933132:ATAC-STARR-seq lymphoblastoid active region 15325 [Gene]
  • LOC129933133:ATAC-STARR-seq lymphoblastoid active region 15326 [Gene]
  • LOC129933134:ATAC-STARR-seq lymphoblastoid active region 15327 [Gene]
  • LOC129933136:ATAC-STARR-seq lymphoblastoid active region 15328 [Gene]
  • LOC129933137:ATAC-STARR-seq lymphoblastoid active region 15329 [Gene]
  • LOC129933138:ATAC-STARR-seq lymphoblastoid active region 15330 [Gene]
  • LOC129933140:ATAC-STARR-seq lymphoblastoid active region 15331 [Gene]
  • LOC129933142:ATAC-STARR-seq lymphoblastoid active region 15332 [Gene]
  • LOC129933143:ATAC-STARR-seq lymphoblastoid active region 15333 [Gene]
  • LOC129933144:ATAC-STARR-seq lymphoblastoid active region 15334 [Gene]
  • LOC129933145:ATAC-STARR-seq lymphoblastoid active region 15335 [Gene]
  • LOC129933146:ATAC-STARR-seq lymphoblastoid active region 15336 [Gene]
  • LOC129933147:ATAC-STARR-seq lymphoblastoid active region 15337 [Gene]
  • LOC129933148:ATAC-STARR-seq lymphoblastoid active region 15338 [Gene]
  • LOC129933149:ATAC-STARR-seq lymphoblastoid active region 15339 [Gene]
  • LOC129933152:ATAC-STARR-seq lymphoblastoid active region 15341 [Gene]
  • LOC129933153:ATAC-STARR-seq lymphoblastoid active region 15342 [Gene]
  • LOC129933110:ATAC-STARR-seq lymphoblastoid silent region 11166 [Gene]
  • LOC129933111:ATAC-STARR-seq lymphoblastoid silent region 11167 [Gene]
  • LOC129933112:ATAC-STARR-seq lymphoblastoid silent region 11168 [Gene]
  • LOC129933117:ATAC-STARR-seq lymphoblastoid silent region 11170 [Gene]
  • LOC129933118:ATAC-STARR-seq lymphoblastoid silent region 11171 [Gene]
  • LOC129933119:ATAC-STARR-seq lymphoblastoid silent region 11172 [Gene]
  • LOC129933120:ATAC-STARR-seq lymphoblastoid silent region 11173 [Gene]
  • LOC129933121:ATAC-STARR-seq lymphoblastoid silent region 11174 [Gene]
  • LOC129933125:ATAC-STARR-seq lymphoblastoid silent region 11175 [Gene]
  • LOC129933127:ATAC-STARR-seq lymphoblastoid silent region 11176 [Gene]
  • LOC129933130:ATAC-STARR-seq lymphoblastoid silent region 11177 [Gene]
  • LOC129933135:ATAC-STARR-seq lymphoblastoid silent region 11178 [Gene]
  • LOC129933139:ATAC-STARR-seq lymphoblastoid silent region 11179 [Gene]
  • LOC129933141:ATAC-STARR-seq lymphoblastoid silent region 11180 [Gene]
  • LOC129933150:ATAC-STARR-seq lymphoblastoid silent region 11181 [Gene]
  • LOC129933151:ATAC-STARR-seq lymphoblastoid silent region 11182 [Gene]
  • LOC126806142:BRD4-independent group 4 enhancer GRCh37_chr2:10959839-10961038 [Gene]
  • LOC126806144:BRD4-independent group 4 enhancer GRCh37_chr2:11529482-11530681 [Gene]
  • LOC126806145:BRD4-independent group 4 enhancer GRCh37_chr2:11565759-11566958 [Gene]
  • LOC126806147:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:11919054-11920253 [Gene]
  • LOC126806148:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:12537530-12538729 [Gene]
  • LOC126806149:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:12866409-12867608 [Gene]
  • LOC126806151:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:13662708-13663907 [Gene]
  • LOC129456127:CRISPR/Cas9-targeted silencer 9 [Gene]
  • LOC115804261:CRISPRi-validated cis-regulatory element chr2.599 [Gene]
  • E2F6:E2F transcription factor 6 [Gene - OMIM - HGNC]
  • LOC126806146:MED14-independent group 3 enhancer GRCh37_chr2:11771171-11772370 [Gene]
  • LOC126806150:MED14-independent group 3 enhancer GRCh37_chr2:12956433-12957632 [Gene]
  • MIR3681HG:MIR3681 host gene [Gene - HGNC]
  • LOC129388817:MPRA-validated peak3592 silencer [Gene]
  • LOC129388818:MPRA-validated peak3593 silencer [Gene]
  • LOC129388819:MPRA-validated peak3594 silencer [Gene]
  • LOC129388820:MPRA-validated peak3595 silencer [Gene]
  • LOC129388821:MPRA-validated peak3596 silencer [Gene]
  • LOC111556161:NFE2L2 motif-containing MPRA enhancer 141 [Gene]
  • LOC132088754:Neanderthal introgressed variant-containing enhancer experimental_52900 [Gene]
  • LOC132088755:Neanderthal introgressed variant-containing enhancer experimental_52953 [Gene]
  • LOC132088756:Neanderthal introgressed variant-containing enhancer experimental_52989 [Gene]
  • LOC132088757:Neanderthal introgressed variant-containing enhancer experimental_52999 [Gene]
  • LOC126806143:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:11075650-11076849 [Gene]
  • FLJ33534:Putative uncharacterized protein FLJ33534 [Gene]
  • ROCK2:Rho associated coiled-coil containing protein kinase 2 [Gene - OMIM - HGNC]
  • LOC122756383:Sharpr-MPRA regulatory region 12680 [Gene]
  • LOC122756384:Sharpr-MPRA regulatory region 12883 [Gene]
  • LOC122756379:Sharpr-MPRA regulatory region 13580 [Gene]
  • LOC112806042:Sharpr-MPRA regulatory region 524 [Gene]
  • LOC120961742:Sharpr-MPRA regulatory region 7562 [Gene]
  • LOC122756380:Sharpr-MPRA regulatory region 7779 [Gene]
  • LOC122756382:Sharpr-MPRA regulatory region 7856 [Gene]
  • LOC122756381:Sharpr-MPRA regulatory region 9262 [Gene]
  • C2orf50:chromosome 2 open reading frame 50 [Gene - HGNC]
  • GREB1:growth regulating estrogen receptor binding 1 [Gene - OMIM - HGNC]
  • LPIN1:lipin 1 [Gene - OMIM - HGNC]
  • LINC01954:long intergenic non-protein coding RNA 1954 [Gene - HGNC]
  • LINC00276:long intergenic non-protein coding RNA 276 [Gene - HGNC]
  • LINC00570:long intergenic non-protein coding RNA 570 [Gene - HGNC]
  • MIR3125:microRNA 3125 [Gene - HGNC]
  • MIR3681:microRNA 3681 [Gene - HGNC]
  • MIR4262:microRNA 4262 [Gene - HGNC]
  • MIR4429:microRNA 4429 [Gene - HGNC]
  • MIR548S:microRNA 548s [Gene - HGNC]
  • NTSR2:neurotensin receptor 2 [Gene - OMIM - HGNC]
  • KCNF1:potassium voltage-gated channel modifier subfamily F member 1 [Gene - OMIM - HGNC]
  • PDIA6:protein disulfide isomerase family A member 6 [Gene - OMIM - HGNC]
  • SLC66A3:solute carrier family 66 member 3 [Gene - HGNC]
  • TRIB2:tribbles pseudokinase 2 [Gene - OMIM - HGNC]
  • LOC100506405:uncharacterized LOC100506405 [Gene]
  • LOC100506474:uncharacterized LOC100506474 [Gene]
  • LOC101929752:uncharacterized LOC101929752 [Gene]
  • LOC105373438:uncharacterized LOC105373438 [Gene]
Variant type:
copy number gain
Cytogenetic location:
2p25.1-24.3
Genomic location:
Preferred name:
GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3
HGVS:
  • NC_000002.12:g.(?_10790663)_(14417134_?)dup
  • NC_000002.10:g.(?_10848240)_(14474709_?)dup
  • NC_000002.11:g.(?_10930789)_(14557258_?)dup
Links:
dbVar: nssv584357; dbVar: nsv497989
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
SCV000174507ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 27, 2010) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000174507.4

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

Last Updated: May 7, 2024