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GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)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:
RCV000143259.6

Allele description [Variation Report for GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3]

GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3

Genes:
  • ABI3BP:ABI family member 3 binding protein [Gene - OMIM - HGNC]
  • ARL13B:ADP ribosylation factor like GTPase 13B [Gene - OMIM - HGNC]
  • ARL6:ADP ribosylation factor like GTPase 6 [Gene - OMIM - HGNC]
  • LOC129937098:ATAC-STARR-seq lymphoblastoid active region 20122 [Gene]
  • LOC129937099:ATAC-STARR-seq lymphoblastoid active region 20123 [Gene]
  • LOC129937100:ATAC-STARR-seq lymphoblastoid active region 20124 [Gene]
  • LOC129937101:ATAC-STARR-seq lymphoblastoid active region 20125 [Gene]
  • LOC129937105:ATAC-STARR-seq lymphoblastoid active region 20128 [Gene]
  • LOC129937107:ATAC-STARR-seq lymphoblastoid active region 20129 [Gene]
  • LOC129937108:ATAC-STARR-seq lymphoblastoid active region 20130 [Gene]
  • LOC129937109:ATAC-STARR-seq lymphoblastoid active region 20131 [Gene]
  • LOC129937110:ATAC-STARR-seq lymphoblastoid active region 20132 [Gene]
  • LOC129937112:ATAC-STARR-seq lymphoblastoid active region 20135 [Gene]
  • LOC129937115:ATAC-STARR-seq lymphoblastoid active region 20137 [Gene]
  • LOC129937118:ATAC-STARR-seq lymphoblastoid active region 20138 [Gene]
  • LOC129937119:ATAC-STARR-seq lymphoblastoid active region 20141 [Gene]
  • LOC129937122:ATAC-STARR-seq lymphoblastoid active region 20142 [Gene]
  • LOC129937123:ATAC-STARR-seq lymphoblastoid active region 20143 [Gene]
  • LOC129937124:ATAC-STARR-seq lymphoblastoid active region 20144 [Gene]
  • LOC129937126:ATAC-STARR-seq lymphoblastoid active region 20145 [Gene]
  • LOC129937127:ATAC-STARR-seq lymphoblastoid active region 20146 [Gene]
  • LOC129937128:ATAC-STARR-seq lymphoblastoid active region 20147 [Gene]
  • LOC129937129:ATAC-STARR-seq lymphoblastoid active region 20148 [Gene]
  • LOC129937133:ATAC-STARR-seq lymphoblastoid active region 20150 [Gene]
  • LOC129937136:ATAC-STARR-seq lymphoblastoid active region 20151 [Gene]
  • LOC129937138:ATAC-STARR-seq lymphoblastoid active region 20153 [Gene]
  • LOC129937139:ATAC-STARR-seq lymphoblastoid active region 20154 [Gene]
  • LOC129937140:ATAC-STARR-seq lymphoblastoid active region 20155 [Gene]
  • LOC129937142:ATAC-STARR-seq lymphoblastoid active region 20157 [Gene]
  • LOC129937143:ATAC-STARR-seq lymphoblastoid active region 20158 [Gene]
  • LOC129937144:ATAC-STARR-seq lymphoblastoid active region 20159 [Gene]
  • LOC129937148:ATAC-STARR-seq lymphoblastoid active region 20161 [Gene]
  • LOC129937149:ATAC-STARR-seq lymphoblastoid active region 20162 [Gene]
  • LOC129937150:ATAC-STARR-seq lymphoblastoid active region 20163 [Gene]
  • LOC129937151:ATAC-STARR-seq lymphoblastoid active region 20164 [Gene]
  • LOC129937152:ATAC-STARR-seq lymphoblastoid active region 20165 [Gene]
  • LOC129937153:ATAC-STARR-seq lymphoblastoid active region 20166 [Gene]
  • LOC129937154:ATAC-STARR-seq lymphoblastoid active region 20169 [Gene]
  • LOC129937155:ATAC-STARR-seq lymphoblastoid active region 20170 [Gene]
  • LOC129937156:ATAC-STARR-seq lymphoblastoid active region 20171 [Gene]
  • LOC129937157:ATAC-STARR-seq lymphoblastoid active region 20172 [Gene]
  • LOC129937158:ATAC-STARR-seq lymphoblastoid active region 20173 [Gene]
  • LOC129937159:ATAC-STARR-seq lymphoblastoid active region 20176 [Gene]
  • LOC129937160:ATAC-STARR-seq lymphoblastoid active region 20177 [Gene]
  • LOC129937161:ATAC-STARR-seq lymphoblastoid active region 20178 [Gene]
  • LOC129937162:ATAC-STARR-seq lymphoblastoid active region 20179 [Gene]
  • LOC129937163:ATAC-STARR-seq lymphoblastoid active region 20180 [Gene]
  • LOC129937165:ATAC-STARR-seq lymphoblastoid active region 20181 [Gene]
  • LOC129937166:ATAC-STARR-seq lymphoblastoid active region 20182 [Gene]
  • LOC129937167:ATAC-STARR-seq lymphoblastoid active region 20183 [Gene]
  • LOC129937168:ATAC-STARR-seq lymphoblastoid active region 20184 [Gene]
  • LOC129937169:ATAC-STARR-seq lymphoblastoid active region 20185 [Gene]
  • LOC129937170:ATAC-STARR-seq lymphoblastoid active region 20186 [Gene]
  • LOC129937171:ATAC-STARR-seq lymphoblastoid active region 20187 [Gene]
  • LOC129937172:ATAC-STARR-seq lymphoblastoid active region 20188 [Gene]
  • LOC129937173:ATAC-STARR-seq lymphoblastoid active region 20189 [Gene]
  • LOC129937102:ATAC-STARR-seq lymphoblastoid silent region 14550 [Gene]
  • LOC129937103:ATAC-STARR-seq lymphoblastoid silent region 14551 [Gene]
  • LOC129937104:ATAC-STARR-seq lymphoblastoid silent region 14552 [Gene]
  • LOC129937106:ATAC-STARR-seq lymphoblastoid silent region 14553 [Gene]
  • LOC129937111:ATAC-STARR-seq lymphoblastoid silent region 14554 [Gene]
  • LOC129937113:ATAC-STARR-seq lymphoblastoid silent region 14555 [Gene]
  • LOC129937114:ATAC-STARR-seq lymphoblastoid silent region 14556 [Gene]
  • LOC129937116:ATAC-STARR-seq lymphoblastoid silent region 14557 [Gene]
  • LOC129937117:ATAC-STARR-seq lymphoblastoid silent region 14558 [Gene]
  • LOC129937120:ATAC-STARR-seq lymphoblastoid silent region 14559 [Gene]
  • LOC129937121:ATAC-STARR-seq lymphoblastoid silent region 14560 [Gene]
  • LOC129937125:ATAC-STARR-seq lymphoblastoid silent region 14561 [Gene]
  • LOC129937130:ATAC-STARR-seq lymphoblastoid silent region 14564 [Gene]
  • LOC129937131:ATAC-STARR-seq lymphoblastoid silent region 14565 [Gene]
  • LOC129937132:ATAC-STARR-seq lymphoblastoid silent region 14566 [Gene]
  • LOC129937134:ATAC-STARR-seq lymphoblastoid silent region 14567 [Gene]
  • LOC129937135:ATAC-STARR-seq lymphoblastoid silent region 14568 [Gene]
  • LOC129937137:ATAC-STARR-seq lymphoblastoid silent region 14569 [Gene]
  • LOC129937141:ATAC-STARR-seq lymphoblastoid silent region 14571 [Gene]
  • LOC129937145:ATAC-STARR-seq lymphoblastoid silent region 14572 [Gene]
  • LOC129937146:ATAC-STARR-seq lymphoblastoid silent region 14573 [Gene]
  • LOC129937147:ATAC-STARR-seq lymphoblastoid silent region 14574 [Gene]
  • LOC129937164:ATAC-STARR-seq lymphoblastoid silent region 14578 [Gene]
  • LOC126806751:BRD4-independent group 4 enhancer GRCh37_chr3:101405139-101406338 [Gene]
  • LOC126806743:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:94656674-94657873 [Gene]
  • LOC126806746:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:98043469-98044668 [Gene]
  • LOC126806749:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:99377337-99378536 [Gene]
  • LOC115995515:CRISPRi-validated cis-regulatory element chr3.3097 [Gene]
  • EPHA6:EPH receptor A6 [Gene - OMIM - HGNC]
  • GPR15:G protein-coupled receptor 15 [Gene - OMIM - HGNC]
  • LOC126806750:MED14-independent group 3 enhancer GRCh37_chr3:101203214-101204413 [Gene]
  • LOC126806753:MED14-independent group 3 enhancer GRCh37_chr3:101913549-101914748 [Gene]
  • LOC126806754:MED14-independent group 3 enhancer GRCh37_chr3:102017651-102018850 [Gene]
  • LOC126806745:MED14-independent group 3 enhancer GRCh37_chr3:96606342-96607541 [Gene]
  • LOC129389105:MPRA-validated peak4749 silencer [Gene]
  • LOC129389106:MPRA-validated peak4754 silencer [Gene]
  • NFKBIZ:NFKB inhibitor zeta [Gene - OMIM - HGNC]
  • NSUN3:NOP2/Sun RNA methyltransferase 3 [Gene - OMIM - HGNC]
  • LOC132088857:Neanderthal introgressed variant-containing enhancer experimental_63759 [Gene]
  • LOC132090698:Neanderthal introgressed variant-containing enhancer experimental_63902 [Gene]
  • LOC126806752:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:101421445-101422644 [Gene]
  • LOC126806744:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:95928173-95929372 [Gene]
  • LOC126806747:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:98164285-98165484 [Gene]
  • LOC126806748:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:98274627-98275826 [Gene]
  • PCNP:PEST proteolytic signal containing nuclear protein [Gene - OMIM - HGNC]
  • RDUR:RIG-I dependent antiviral response regulator RNA [Gene - HGNC]
  • ST3GAL6:ST3 beta-galactoside alpha-2,3-sialyltransferase 6 [Gene - OMIM - HGNC]
  • ST3GAL6-AS1:ST3GAL6 antisense RNA 1 [Gene - HGNC]
  • SENP7:SUMO specific peptidase 7 [Gene - OMIM - HGNC]
  • LOC123002322:Sharpr-MPRA regulatory region 1067 [Gene]
  • LOC121725152:Sharpr-MPRA regulatory region 11159 [Gene]
  • LOC123002323:Sharpr-MPRA regulatory region 11515 [Gene]
  • LOC112841610:Sharpr-MPRA regulatory region 11 [Gene]
  • LOC123002313:Sharpr-MPRA regulatory region 12381 [Gene]
  • LOC112935965:Sharpr-MPRA regulatory region 13337 [Gene]
  • LOC123002321:Sharpr-MPRA regulatory region 13899 [Gene]
  • LOC112935966:Sharpr-MPRA regulatory region 14327 [Gene]
  • LOC123002320:Sharpr-MPRA regulatory region 14979 [Gene]
  • LOC123002316:Sharpr-MPRA regulatory region 15587 [Gene]
  • LOC123002317:Sharpr-MPRA regulatory region 1863 [Gene]
  • LOC123002315:Sharpr-MPRA regulatory region 220 [Gene]
  • LOC121725151:Sharpr-MPRA regulatory region 3286 [Gene]
  • LOC123002318:Sharpr-MPRA regulatory region 4023 [Gene]
  • LOC121725150:Sharpr-MPRA regulatory region 5379 [Gene]
  • LOC123002319:Sharpr-MPRA regulatory region 7106 [Gene]
  • LOC112841611:Sharpr-MPRA regulatory region 7874 [Gene]
  • LOC123002314:Sharpr-MPRA regulatory region 866 [Gene]
  • LOC123002324:Sharpr-MPRA regulatory region 9057 [Gene]
  • LOC112935964:Sharpr-MPRA regulatory region 9245 [Gene]
  • TBC1D23:TBC1 domain family member 23 [Gene - OMIM - HGNC]
  • LOC110121113:VISTA enhancer hs1462 [Gene]
  • LOC110121116:VISTA enhancer hs1469 [Gene]
  • ZBTB11-AS1:ZBTB11 antisense RNA 1 [Gene - HGNC]
  • ADGRG7:adhesion G protein-coupled receptor G7 [Gene - OMIM - HGNC]
  • CEP97:centrosomal protein 97 [Gene - OMIM - HGNC]
  • CLDND1:claudin domain containing 1 [Gene - OMIM - HGNC]
  • CMSS1:cms1 ribosomal small subunit homolog [Gene - HGNC]
  • COL8A1:collagen type VIII alpha 1 chain [Gene - OMIM - HGNC]
  • CPOX:coproporphyrinogen oxidase [Gene - OMIM - HGNC]
  • CRYBG3:crystallin beta-gamma domain containing 3 [Gene - OMIM - HGNC]
  • DHFR2:dihydrofolate reductase 2 [Gene - OMIM - HGNC]
  • DCBLD2:discoidin, CUB and LCCL domain containing 2 [Gene - OMIM - HGNC]
  • FILIP1L:filamin A interacting protein 1 like [Gene - OMIM - HGNC]
  • GABRR3:gamma-aminobutyric acid type A receptor subunit rho3 [Gene - OMIM - HGNC]
  • IMPG2:interphotoreceptor matrix proteoglycan 2 [Gene - OMIM - HGNC]
  • LNP1:leukemia NUP98 fusion partner 1 [Gene - HGNC]
  • LINC00879:long intergenic non-protein coding RNA 879 [Gene - HGNC]
  • LINC00973:long intergenic non-protein coding RNA 973 [Gene - HGNC]
  • MIR3921:microRNA 3921 [Gene - HGNC]
  • MIR548AB:microRNA 548ab [Gene - HGNC]
  • MIR8060:microRNA 8060 [Gene - HGNC]
  • NXPE3:neurexophilin and PC-esterase domain family member 3 [Gene - HGNC]
  • NIT2:nitrilase family member 2 [Gene - OMIM - HGNC]
  • OR5AC2:olfactory receptor family 5 subfamily AC member 2 [Gene - HGNC]
  • OR5H14:olfactory receptor family 5 subfamily H member 14 [Gene - HGNC]
  • OR5H15:olfactory receptor family 5 subfamily H member 15 [Gene - HGNC]
  • OR5H1:olfactory receptor family 5 subfamily H member 1 [Gene - HGNC]
  • OR5H2:olfactory receptor family 5 subfamily H member 2 [Gene - HGNC]
  • OR5H6:olfactory receptor family 5 subfamily H member 6 [Gene - HGNC]
  • OR5K1:olfactory receptor family 5 subfamily K member 1 [Gene - HGNC]
  • OR5K2:olfactory receptor family 5 subfamily K member 2 [Gene - HGNC]
  • OR5K3:olfactory receptor family 5 subfamily K member 3 [Gene - HGNC]
  • OR5K4:olfactory receptor family 5 subfamily K member 4 [Gene - HGNC]
  • PROS1:protein S [Gene - OMIM - HGNC]
  • RIOX2:ribosomal oxygenase 2 [Gene - OMIM - HGNC]
  • RPL24:ribosomal protein L24 [Gene - OMIM - HGNC]
  • STX19:syntaxin 19 [Gene - HGNC]
  • TRMT10C:tRNA methyltransferase 10C, mitochondrial RNase P subunit [Gene - OMIM - HGNC]
  • TFG:trafficking from ER to golgi regulator [Gene - OMIM - HGNC]
  • TOMM70:translocase of outer mitochondrial membrane 70 [Gene - OMIM - HGNC]
  • TMEM45A:transmembrane protein 45A [Gene - OMIM - HGNC]
  • HP09053:uncharacterized LOC101929357 [Gene]
  • LOC101929411:uncharacterized LOC101929411 [Gene]
  • LOC105374002:uncharacterized LOC105374002 [Gene]
  • LOC105374010:uncharacterized LOC105374010 [Gene]
  • ZBTB11:zinc finger and BTB domain containing 11 [Gene - OMIM - HGNC]
  • ZPLD1:zona pellucida like domain containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3q11.1-13.11
Genomic location:
Preferred name:
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3
HGVS:
  • NC_000003.12:g.(?_93819623)_(103888749_?)dup
  • NC_000003.10:g.(?_95021157)_(105090283_?)dup
  • NC_000003.11:g.(?_93538467)_(103607593_?)dup
Links:
dbVar: nssv1610350; dbVar: nsv932158
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
SCV000181641ISCA 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, SCV000181641.4

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

Last Updated: May 7, 2024