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GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 25, 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:
RCV000140215.5

Allele description

GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3

Genes:
  • ARL6IP5:ADP ribosylation factor like GTPase 6 interacting protein 5 [Gene - OMIM - HGNC]
  • LOC129937005:ATAC-STARR-seq lymphoblastoid active region 20050 [Gene]
  • LOC129937009:ATAC-STARR-seq lymphoblastoid active region 20051 [Gene]
  • LOC129937010:ATAC-STARR-seq lymphoblastoid active region 20052 [Gene]
  • LOC129937011:ATAC-STARR-seq lymphoblastoid active region 20053 [Gene]
  • LOC129937012:ATAC-STARR-seq lymphoblastoid active region 20054 [Gene]
  • LOC129937013:ATAC-STARR-seq lymphoblastoid active region 20055 [Gene]
  • LOC129937014:ATAC-STARR-seq lymphoblastoid active region 20056 [Gene]
  • LOC129937015:ATAC-STARR-seq lymphoblastoid active region 20057 [Gene]
  • LOC129937016:ATAC-STARR-seq lymphoblastoid active region 20058 [Gene]
  • LOC129937017:ATAC-STARR-seq lymphoblastoid active region 20059 [Gene]
  • LOC129937018:ATAC-STARR-seq lymphoblastoid active region 20060 [Gene]
  • LOC129937019:ATAC-STARR-seq lymphoblastoid active region 20061 [Gene]
  • LOC129937020:ATAC-STARR-seq lymphoblastoid active region 20062 [Gene]
  • LOC129937021:ATAC-STARR-seq lymphoblastoid active region 20063 [Gene]
  • LOC129937023:ATAC-STARR-seq lymphoblastoid active region 20064 [Gene]
  • LOC129937028:ATAC-STARR-seq lymphoblastoid active region 20067 [Gene]
  • LOC129937029:ATAC-STARR-seq lymphoblastoid active region 20068 [Gene]
  • LOC129937030:ATAC-STARR-seq lymphoblastoid active region 20069 [Gene]
  • LOC129937032:ATAC-STARR-seq lymphoblastoid active region 20070 [Gene]
  • LOC129937033:ATAC-STARR-seq lymphoblastoid active region 20071 [Gene]
  • LOC129937034:ATAC-STARR-seq lymphoblastoid active region 20072 [Gene]
  • LOC129937035:ATAC-STARR-seq lymphoblastoid active region 20073 [Gene]
  • LOC129937036:ATAC-STARR-seq lymphoblastoid active region 20074 [Gene]
  • LOC129937037:ATAC-STARR-seq lymphoblastoid active region 20075 [Gene]
  • LOC129937038:ATAC-STARR-seq lymphoblastoid active region 20076 [Gene]
  • LOC129937039:ATAC-STARR-seq lymphoblastoid active region 20077 [Gene]
  • LOC129937041:ATAC-STARR-seq lymphoblastoid active region 20081 [Gene]
  • LOC129937042:ATAC-STARR-seq lymphoblastoid active region 20082 [Gene]
  • LOC129937043:ATAC-STARR-seq lymphoblastoid active region 20084 [Gene]
  • LOC129937044:ATAC-STARR-seq lymphoblastoid active region 20085 [Gene]
  • LOC129937046:ATAC-STARR-seq lymphoblastoid active region 20086 [Gene]
  • LOC129937049:ATAC-STARR-seq lymphoblastoid active region 20087 [Gene]
  • LOC129937051:ATAC-STARR-seq lymphoblastoid active region 20088 [Gene]
  • LOC129937052:ATAC-STARR-seq lymphoblastoid active region 20089 [Gene]
  • LOC129937053:ATAC-STARR-seq lymphoblastoid active region 20090 [Gene]
  • LOC129937054:ATAC-STARR-seq lymphoblastoid active region 20091 [Gene]
  • LOC129937055:ATAC-STARR-seq lymphoblastoid active region 20092 [Gene]
  • LOC129937056:ATAC-STARR-seq lymphoblastoid active region 20093 [Gene]
  • LOC129937059:ATAC-STARR-seq lymphoblastoid active region 20094 [Gene]
  • LOC129937061:ATAC-STARR-seq lymphoblastoid active region 20095 [Gene]
  • LOC129937062:ATAC-STARR-seq lymphoblastoid active region 20096 [Gene]
  • LOC129937064:ATAC-STARR-seq lymphoblastoid active region 20097 [Gene]
  • LOC129937065:ATAC-STARR-seq lymphoblastoid active region 20098 [Gene]
  • LOC129937066:ATAC-STARR-seq lymphoblastoid active region 20099 [Gene]
  • LOC129937067:ATAC-STARR-seq lymphoblastoid active region 20101 [Gene]
  • LOC129937068:ATAC-STARR-seq lymphoblastoid active region 20102 [Gene]
  • LOC129937069:ATAC-STARR-seq lymphoblastoid active region 20103 [Gene]
  • LOC129937071:ATAC-STARR-seq lymphoblastoid active region 20104 [Gene]
  • LOC129937074:ATAC-STARR-seq lymphoblastoid active region 20105 [Gene]
  • LOC129937075:ATAC-STARR-seq lymphoblastoid active region 20106 [Gene]
  • LOC129937003:ATAC-STARR-seq lymphoblastoid silent region 14514 [Gene]
  • LOC129937004:ATAC-STARR-seq lymphoblastoid silent region 14515 [Gene]
  • LOC129937006:ATAC-STARR-seq lymphoblastoid silent region 14516 [Gene]
  • LOC129937007:ATAC-STARR-seq lymphoblastoid silent region 14517 [Gene]
  • LOC129937008:ATAC-STARR-seq lymphoblastoid silent region 14518 [Gene]
  • LOC129937022:ATAC-STARR-seq lymphoblastoid silent region 14520 [Gene]
  • LOC129937024:ATAC-STARR-seq lymphoblastoid silent region 14521 [Gene]
  • LOC129937025:ATAC-STARR-seq lymphoblastoid silent region 14522 [Gene]
  • LOC129937026:ATAC-STARR-seq lymphoblastoid silent region 14523 [Gene]
  • LOC129937027:ATAC-STARR-seq lymphoblastoid silent region 14524 [Gene]
  • LOC129937031:ATAC-STARR-seq lymphoblastoid silent region 14525 [Gene]
  • LOC129937040:ATAC-STARR-seq lymphoblastoid silent region 14526 [Gene]
  • LOC129937045:ATAC-STARR-seq lymphoblastoid silent region 14527 [Gene]
  • LOC129937047:ATAC-STARR-seq lymphoblastoid silent region 14528 [Gene]
  • LOC129937048:ATAC-STARR-seq lymphoblastoid silent region 14529 [Gene]
  • LOC129937050:ATAC-STARR-seq lymphoblastoid silent region 14530 [Gene]
  • LOC129937057:ATAC-STARR-seq lymphoblastoid silent region 14531 [Gene]
  • LOC129937058:ATAC-STARR-seq lymphoblastoid silent region 14532 [Gene]
  • LOC129937060:ATAC-STARR-seq lymphoblastoid silent region 14533 [Gene]
  • LOC129937063:ATAC-STARR-seq lymphoblastoid silent region 14534 [Gene]
  • LOC129937070:ATAC-STARR-seq lymphoblastoid silent region 14535 [Gene]
  • LOC129937072:ATAC-STARR-seq lymphoblastoid silent region 14536 [Gene]
  • LOC129937073:ATAC-STARR-seq lymphoblastoid silent region 14537 [Gene]
  • LOC126806714:BRD4-independent group 4 enhancer GRCh37_chr3:71025197-71026396 [Gene]
  • LOC126806720:BRD4-independent group 4 enhancer GRCh37_chr3:74648227-74649426 [Gene]
  • LOC126806709:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:69152971-69154170 [Gene]
  • LOC126806710:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:69170601-69171800 [Gene]
  • LOC126806712:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:70372036-70373235 [Gene]
  • LOC126806718:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:72318159-72319358 [Gene]
  • LOC126806719:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:72348604-72349803 [Gene]
  • LOC126806722:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:76008545-76009744 [Gene]
  • LOC126806723:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:76251853-76253052 [Gene]
  • LOC126806724:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:76518793-76519992 [Gene]
  • LOC115995512:CRISPRi-validated cis-regulatory element chr3.2860 [Gene]
  • EOGT:EGF domain specific O-linked N-acetylglucosamine transferase [Gene - OMIM - HGNC]
  • EOGT-DT:EOGT divergent transcript [Gene - HGNC]
  • FRMD4B:FERM domain containing 4B [Gene - OMIM - HGNC]
  • FOXP1-AS1:FOXP1 antisense RNA 1 [Gene - HGNC]
  • FOXP1-DT:FOXP1 divergent transcript [Gene - HGNC]
  • FOXP1-IT1:FOXP1 intronic transcript 1 [Gene - HGNC]
  • FRG2C:FSHD region gene 2 family member C [Gene - HGNC]
  • GPR27:G protein-coupled receptor 27 [Gene - OMIM - HGNC]
  • LOC126806713:MED14-independent group 3 enhancer GRCh37_chr3:70902705-70903904 [Gene]
  • LOC126806717:MED14-independent group 3 enhancer GRCh37_chr3:72067180-72068379 [Gene]
  • LOC107988042:MITF-A promoter region [Gene]
  • LOC107988044:MITF-H promoter region [Gene]
  • LOC107988038:MITF-M distal enhancer [Gene]
  • LOC107988030:MITF-M promoter region [Gene]
  • LOC129389088:MPRA-validated peak4695 silencer [Gene]
  • LOC129389089:MPRA-validated peak4696 silencer [Gene]
  • LOC129389090:MPRA-validated peak4698 silencer [Gene]
  • LOC129389091:MPRA-validated peak4702 silencer [Gene]
  • LOC129389092:MPRA-validated peak4708 silencer [Gene]
  • LOC129389093:MPRA-validated peak4710 silencer [Gene]
  • MDFIC2:MyoD family inhibitor domain containing 2 [Gene - HGNC]
  • LOC111589208:NFE2L2 motif-containing MPRA enhancer 231 [Gene]
  • LOC132088981:Neanderthal introgressed variant-containing enhancer experimental_71107 [Gene]
  • LOC132088982:Neanderthal introgressed variant-containing enhancer experimental_71127 [Gene]
  • LOC132088983:Neanderthal introgressed variant-containing enhancer experimental_71192 [Gene]
  • LOC132088984:Neanderthal introgressed variant-containing enhancer experimental_71246 [Gene]
  • LOC132090697:Neanderthal introgressed variant-containing enhancer experimental_71286 [Gene]
  • LOC132088985:Neanderthal introgressed variant-containing enhancer experimental_71345 [Gene]
  • LOC132088986:Neanderthal introgressed variant-containing enhancer experimental_71357 [Gene]
  • LOC132088987:Neanderthal introgressed variant-containing enhancer experimental_71361 [Gene]
  • LOC126806711:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:69818568-69819767 [Gene]
  • LOC126806715:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:71552767-71553966 [Gene]
  • LOC126806716:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:72031234-72032433 [Gene]
  • LOC126806721:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:75097571-75098770 [Gene]
  • PDZRN3:PDZ domain containing ring finger 3 [Gene - OMIM - HGNC]
  • PDZRN3-AS1:PDZRN3 antisense RNA 1 [Gene - HGNC]
  • RYBP:RING1 and YY1 binding protein [Gene - OMIM - HGNC]
  • SHQ1:SHQ1, H/ACA ribonucleoprotein assembly factor [Gene - OMIM - HGNC]
  • LOC121009682:Sharpr-MPRA regulatory region 10271 [Gene]
  • LOC112935958:Sharpr-MPRA regulatory region 10785 [Gene]
  • LOC123002304:Sharpr-MPRA regulatory region 10822 [Gene]
  • LOC112935957:Sharpr-MPRA regulatory region 11074 [Gene]
  • LOC121009679:Sharpr-MPRA regulatory region 11865 [Gene]
  • LOC121725149:Sharpr-MPRA regulatory region 12200 [Gene]
  • LOC123002305:Sharpr-MPRA regulatory region 15380 [Gene]
  • LOC123002306:Sharpr-MPRA regulatory region 15711 [Gene]
  • LOC112935961:Sharpr-MPRA regulatory region 2645 [Gene]
  • LOC112935956:Sharpr-MPRA regulatory region 3399 [Gene]
  • LOC121009680:Sharpr-MPRA regulatory region 3624 [Gene]
  • LOC123002302:Sharpr-MPRA regulatory region 3883 [Gene]
  • LOC123000072:Sharpr-MPRA regulatory region 589 [Gene]
  • LOC123002303:Sharpr-MPRA regulatory region 6361 [Gene]
  • LOC123002301:Sharpr-MPRA regulatory region 8579 [Gene]
  • LOC121009681:Sharpr-MPRA regulatory region 8765 [Gene]
  • LOC112935959:Sharpr-MPRA regulatory region 9383 [Gene]
  • TAFA1:TAFA chemokine like family member 1 [Gene - OMIM - HGNC]
  • TAFA4:TAFA chemokine like family member 4 [Gene - OMIM - HGNC]
  • TMF1:TATA element modulatory factor 1 [Gene - OMIM - HGNC]
  • LOC110120986:VISTA enhancer hs1092 [Gene]
  • LOC110120994:VISTA enhancer hs1116 [Gene]
  • LOC110121007:VISTA enhancer hs1149 [Gene]
  • LOC110120604:VISTA enhancer hs187 [Gene]
  • LOC110120720:VISTA enhancer hs630 [Gene]
  • LOC110120791:VISTA enhancer hs864 [Gene]
  • LOC110120812:VISTA enhancer hs965 [Gene]
  • CNTN3:contactin 3 [Gene - OMIM - HGNC]
  • EBLN2:endogenous Bornavirus like nucleoprotein 2 [Gene - OMIM - HGNC]
  • EIF4E3:eukaryotic translation initiation factor 4E family member 3 [Gene - OMIM - HGNC]
  • FOXP1:forkhead box P1 [Gene - OMIM - HGNC]
  • GXYLT2:glucoside xylosyltransferase 2 [Gene - OMIM - HGNC]
  • LMOD3:leiomodin 3 [Gene - OMIM - HGNC]
  • LINC02005:long intergenic non-protein coding RNA 2005 [Gene - HGNC]
  • LINC02018:long intergenic non-protein coding RNA 2018 [Gene - HGNC]
  • LINC02047:long intergenic non-protein coding RNA 2047 [Gene - HGNC]
  • LINC00870:long intergenic non-protein coding RNA 870 [Gene - HGNC]
  • LINC00877:long intergenic non-protein coding RNA 877 [Gene - HGNC]
  • LINC00960:long intergenic non-protein coding RNA 960 [Gene - HGNC]
  • MITF:melanocyte inducing transcription factor [Gene - OMIM - HGNC]
  • MIR1284:microRNA 1284 [Gene - HGNC]
  • MIR1324:microRNA 1324 [Gene - HGNC]
  • MIR3136:microRNA 3136 [Gene - HGNC]
  • MIR4273:microRNA 4273 [Gene - HGNC]
  • MIR4444-2:microRNA 4444-2 [Gene - HGNC]
  • PROK2:prokineticin 2 [Gene - OMIM - HGNC]
  • PPP4R2:protein phosphatase 4 regulatory subunit 2 [Gene - OMIM - HGNC]
  • ROBO2:roundabout guidance receptor 2 [Gene - OMIM - HGNC]
  • SAMMSON:survival associated mitochondrial melanoma specific oncogenic non-coding RNA [Gene - OMIM - HGNC]
  • UBA3:ubiquitin like modifier activating enzyme 3 [Gene - OMIM - HGNC]
  • LOC101927296:uncharacterized LOC101927296 [Gene]
  • LOC105377146:uncharacterized LOC105377146 [Gene]
  • LOC105377162:uncharacterized LOC105377162 [Gene]
  • ZNF717:zinc finger protein 717 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3p14.1-12.3
Genomic location:
Preferred name:
GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3
HGVS:
  • NC_000003.12:g.(?_68328980)_(76764319_?)dup
  • NC_000003.10:g.(?_68460820)_(76896160_?)dup
  • NC_000003.11:g.(?_68378130)_(76813470_?)dup
Links:
dbVar: nssv1608120; dbVar: nsv931392
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
SCV000180889ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Jan 25, 2013) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000180889.4

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

Last Updated: Oct 14, 2023