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GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000053804.4

Allele description [Variation Report for GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3]

GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3

Genes:
  • LOC130055244:ATAC-STARR-seq lymphoblastoid active region 8067 [Gene]
  • LOC130055245:ATAC-STARR-seq lymphoblastoid active region 8068 [Gene]
  • LOC130055246:ATAC-STARR-seq lymphoblastoid active region 8069 [Gene]
  • LOC130055247:ATAC-STARR-seq lymphoblastoid active region 8070 [Gene]
  • LOC130055248:ATAC-STARR-seq lymphoblastoid active region 8073 [Gene]
  • LOC130055249:ATAC-STARR-seq lymphoblastoid active region 8078 [Gene]
  • LOC130055250:ATAC-STARR-seq lymphoblastoid active region 8079 [Gene]
  • LOC130055251:ATAC-STARR-seq lymphoblastoid active region 8080 [Gene]
  • LOC130055254:ATAC-STARR-seq lymphoblastoid active region 8081 [Gene]
  • LOC130055256:ATAC-STARR-seq lymphoblastoid active region 8082 [Gene]
  • LOC130055257:ATAC-STARR-seq lymphoblastoid active region 8083 [Gene]
  • LOC130055258:ATAC-STARR-seq lymphoblastoid active region 8084 [Gene]
  • LOC130055260:ATAC-STARR-seq lymphoblastoid active region 8085 [Gene]
  • LOC130055261:ATAC-STARR-seq lymphoblastoid active region 8086 [Gene]
  • LOC130055262:ATAC-STARR-seq lymphoblastoid active region 8087 [Gene]
  • LOC130055263:ATAC-STARR-seq lymphoblastoid active region 8088 [Gene]
  • LOC130055264:ATAC-STARR-seq lymphoblastoid active region 8089 [Gene]
  • LOC130055265:ATAC-STARR-seq lymphoblastoid active region 8090 [Gene]
  • LOC130055266:ATAC-STARR-seq lymphoblastoid active region 8091 [Gene]
  • LOC130055267:ATAC-STARR-seq lymphoblastoid active region 8092 [Gene]
  • LOC130055270:ATAC-STARR-seq lymphoblastoid active region 8093 [Gene]
  • LOC130055271:ATAC-STARR-seq lymphoblastoid active region 8094 [Gene]
  • LOC130055272:ATAC-STARR-seq lymphoblastoid active region 8095 [Gene]
  • LOC130055273:ATAC-STARR-seq lymphoblastoid active region 8096 [Gene]
  • LOC130055274:ATAC-STARR-seq lymphoblastoid active region 8097 [Gene]
  • LOC130055276:ATAC-STARR-seq lymphoblastoid active region 8098 [Gene]
  • LOC130055252:ATAC-STARR-seq lymphoblastoid silent region 5567 [Gene]
  • LOC130055253:ATAC-STARR-seq lymphoblastoid silent region 5568 [Gene]
  • LOC130055255:ATAC-STARR-seq lymphoblastoid silent region 5569 [Gene]
  • LOC130055259:ATAC-STARR-seq lymphoblastoid silent region 5572 [Gene]
  • LOC130055268:ATAC-STARR-seq lymphoblastoid silent region 5573 [Gene]
  • LOC130055269:ATAC-STARR-seq lymphoblastoid silent region 5574 [Gene]
  • LOC130055275:ATAC-STARR-seq lymphoblastoid silent region 5575 [Gene]
  • LOC130055277:ATAC-STARR-seq lymphoblastoid silent region 5576 [Gene]
  • LOC130055278:ATAC-STARR-seq lymphoblastoid silent region 5577 [Gene]
  • LOC130055279:ATAC-STARR-seq lymphoblastoid silent region 5578 [Gene]
  • LOC130055280:ATAC-STARR-seq lymphoblastoid silent region 5579 [Gene]
  • LOC130055281:ATAC-STARR-seq lymphoblastoid silent region 5581 [Gene]
  • LOC126861881:BRD4-independent group 4 enhancer GRCh37_chr14:21296219-21297418 [Gene]
  • LOC126861883:BRD4-independent group 4 enhancer GRCh37_chr14:21467511-21468710 [Gene]
  • LOC126861884:BRD4-independent group 4 enhancer GRCh37_chr14:21487674-21488873 [Gene]
  • LOC126861886:BRD4-independent group 4 enhancer GRCh37_chr14:21552808-21554007 [Gene]
  • LOC126861887:BRD4-independent group 4 enhancer GRCh37_chr14:21820143-21821342 [Gene]
  • LOC126861878:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:20763215-20764414 [Gene]
  • LOC126861879:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:20868788-20869987 [Gene]
  • LOC126861885:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:21550650-21551849 [Gene]
  • EGILA:EGFR interacting lncRNA [Gene - HGNC]
  • LOC126861880:MED14-independent group 3 enhancer GRCh37_chr14:21219442-21220641 [Gene]
  • LOC126861882:MED14-independent group 3 enhancer GRCh37_chr14:21464288-21465487 [Gene]
  • LOC129390612:MPRA-validated peak2110 silencer [Gene]
  • LOC129390613:MPRA-validated peak2111 silencer [Gene]
  • LOC129390614:MPRA-validated peak2113 silencer [Gene]
  • NDRG2:NDRG family member 2 [Gene - OMIM - HGNC]
  • OSGEP:O-sialoglycoprotein endopeptidase [Gene - OMIM - HGNC]
  • LOC107372315:OSGEP/APEX1 bi-directional promoter region [Gene]
  • RNASE11-AS1:RNASE11 and RNASE12 antisense RNA 1 [Gene - HGNC]
  • RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]
  • ARHGEF40:Rho guanine nucleotide exchange factor 40 [Gene - OMIM - HGNC]
  • SUPT16H:SPT16 homolog, facilitates chromatin remodeling subunit [Gene - OMIM - HGNC]
  • LOC124958013:Sharpr-MPRA regulatory region 11184 [Gene]
  • LOC124958011:Sharpr-MPRA regulatory region 11977 [Gene]
  • LOC121838585:Sharpr-MPRA regulatory region 4676 [Gene]
  • LOC124958012:Sharpr-MPRA regulatory region 8150 [Gene]
  • LOC112214170:Sharpr-MPRA regulatory region 8185 [Gene]
  • LOC124958010:Sharpr-MPRA regulatory region 9617 [Gene]
  • ANG:angiogenin [Gene - OMIM - HGNC]
  • APEX1:apurinic/apyrimidinic endodeoxyribonuclease 1 [Gene - OMIM - HGNC]
  • CCNB1IP1:cyclin B1 interacting protein 1 [Gene - OMIM - HGNC]
  • EDDM3A:epididymal protein 3A [Gene - OMIM - HGNC]
  • EDDM3B:epididymal protein 3B [Gene - OMIM - HGNC]
  • HNRNPC:heterogeneous nuclear ribonucleoprotein C [Gene - OMIM - HGNC]
  • KLHL33:kelch like family member 33 [Gene - HGNC]
  • LINC00641:long intergenic non-protein coding RNA 641 [Gene - HGNC]
  • METTL17:methyltransferase like 17 [Gene - OMIM - HGNC]
  • MIR6717:microRNA 6717 [Gene - HGNC]
  • OR11G2:olfactory receptor family 11 subfamily G member 2 [Gene - HGNC]
  • OR11H4:olfactory receptor family 11 subfamily H member 4 [Gene - HGNC]
  • OR11H6:olfactory receptor family 11 subfamily H member 6 [Gene - HGNC]
  • OR11H7:olfactory receptor family 11 subfamily H member 7 (gene/pseudogene) [Gene - HGNC]
  • OR4N5:olfactory receptor family 4 subfamily N member 5 [Gene - HGNC]
  • OR5AU1:olfactory receptor family 5 subfamily AU member 1 [Gene - HGNC]
  • OR6S1:olfactory receptor family 6 subfamily S member 1 [Gene - HGNC]
  • PIP4P1:phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 [Gene - OMIM - HGNC]
  • PARP2:poly(ADP-ribose) polymerase 2 [Gene - OMIM - HGNC]
  • PNP:purine nucleoside phosphorylase [Gene - OMIM - HGNC]
  • RNASE1:ribonuclease A family member 1, pancreatic [Gene - OMIM - HGNC]
  • RNASE10:ribonuclease A family member 10 (inactive) [Gene - HGNC]
  • RNASE11:ribonuclease A family member 11 (inactive) [Gene - HGNC]
  • RNASE12:ribonuclease A family member 12 (inactive) [Gene - HGNC]
  • RNASE13:ribonuclease A family member 13 (inactive) [Gene - HGNC]
  • RNASE2:ribonuclease A family member 2 [Gene - OMIM - HGNC]
  • RNASE3:ribonuclease A family member 3 [Gene - OMIM - HGNC]
  • RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]
  • RNASE7:ribonuclease A family member 7 [Gene - OMIM - HGNC]
  • RNASE8:ribonuclease A family member 8 [Gene - OMIM - HGNC]
  • RNASE9:ribonuclease A family member 9 (inactive) [Gene - OMIM - HGNC]
  • RNASE6:ribonuclease A family member k6 [Gene - OMIM - HGNC]
  • RPPH1:ribonuclease P RNA component H1 [Gene - OMIM - HGNC]
  • SNORD126:small nucleolar RNA, C/D box 126 [Gene - HGNC]
  • SNORA79B:small nucleolar RNA, H/ACA box 79B [Gene - HGNC]
  • SLC39A2:solute carrier family 39 member 2 [Gene - OMIM - HGNC]
  • TRL-AAG2-3:tRNA-Leu (anticodon AAG) 2-3 [Gene - OMIM - HGNC]
  • TRL-TAG2-1:tRNA-Leu (anticodon TAG) 2-1 [Gene - HGNC]
  • TRP-AGG2-5:tRNA-Pro (anticodon AGG) 2-5 [Gene - OMIM - HGNC]
  • TRP-AGG2-6:tRNA-Pro (anticodon AGG) 2-6 [Gene - OMIM - HGNC]
  • TRP-TGG1-1:tRNA-Pro (anticodon TGG) 1-1 [Gene - HGNC]
  • TRP-TGG3-2:tRNA-Pro (anticodon TGG) 3-2 [Gene - HGNC]
  • TRT-TGT3-1:tRNA-Thr (anticodon TGT) 3-1 [Gene - OMIM - HGNC]
  • TRT-TGT4-1:tRNA-Thr (anticodon TGT) 4-1 [Gene - HGNC]
  • TRT-TGT5-1:tRNA-Thr (anticodon TGT) 5-1 [Gene - HGNC]
  • TRY-GTA4-1:tRNA-Tyr (anticodon GTA) 4-1 [Gene - HGNC]
  • TRY-GTA5-3:tRNA-Tyr (anticodon GTA) 5-3 [Gene - HGNC]
  • TRY-GTA5-4:tRNA-Tyr (anticodon GTA) 5-4 [Gene - HGNC]
  • TRY-GTA5-5:tRNA-Tyr (anticodon GTA) 5-5 [Gene - HGNC]
  • TRY-GTA7-1:tRNA-Tyr (anticodon GTA) 7-1 [Gene - HGNC]
  • TEP1:telomerase associated protein 1 [Gene - OMIM - HGNC]
  • TTC5:tetratricopeptide repeat domain 5 [Gene - OMIM - HGNC]
  • TMEM253:transmembrane protein 253 [Gene - HGNC]
  • TPPP2:tubulin polymerization promoting protein family member 2 [Gene - OMIM - HGNC]
  • LOC101929718:uncharacterized LOC101929718 [Gene]
  • ZNF219:zinc finger protein 219 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3
HGVS:
  • NC_000014.9:g.(?_20127290)_(21376436_?)dup
  • NC_000014.7:g.(?_19665289)_(20914435_?)dup
  • NC_000014.8:g.(?_20595449)_(21844595_?)dup
Links:
dbVar: nssv578666; dbVar: nsv532463
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
SCV000081167GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081167.4

#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