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GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 9, 2012
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:
RCV000138220.5

Allele description [Variation Report for GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3]

GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3

Genes:
  • ALOX12-AS1:ALOX12 antisense RNA 1 [Gene - HGNC]
  • LOC130060087:ATAC-STARR-seq lymphoblastoid active region 11584 [Gene]
  • LOC130060088:ATAC-STARR-seq lymphoblastoid active region 11585 [Gene]
  • LOC130060089:ATAC-STARR-seq lymphoblastoid active region 11586 [Gene]
  • LOC130060090:ATAC-STARR-seq lymphoblastoid active region 11587 [Gene]
  • LOC130060091:ATAC-STARR-seq lymphoblastoid active region 11588 [Gene]
  • LOC130060092:ATAC-STARR-seq lymphoblastoid active region 11589 [Gene]
  • LOC130060095:ATAC-STARR-seq lymphoblastoid active region 11591 [Gene]
  • LOC130060097:ATAC-STARR-seq lymphoblastoid active region 11592 [Gene]
  • LOC130060098:ATAC-STARR-seq lymphoblastoid active region 11593 [Gene]
  • LOC130060100:ATAC-STARR-seq lymphoblastoid active region 11596 [Gene]
  • LOC130060105:ATAC-STARR-seq lymphoblastoid active region 11597 [Gene]
  • LOC130060106:ATAC-STARR-seq lymphoblastoid active region 11598 [Gene]
  • LOC130060107:ATAC-STARR-seq lymphoblastoid active region 11599 [Gene]
  • LOC130060108:ATAC-STARR-seq lymphoblastoid active region 11600 [Gene]
  • LOC130060109:ATAC-STARR-seq lymphoblastoid active region 11601 [Gene]
  • LOC130060111:ATAC-STARR-seq lymphoblastoid active region 11602 [Gene]
  • LOC130060112:ATAC-STARR-seq lymphoblastoid active region 11603 [Gene]
  • LOC130060115:ATAC-STARR-seq lymphoblastoid active region 11604 [Gene]
  • LOC130060117:ATAC-STARR-seq lymphoblastoid active region 11605 [Gene]
  • LOC130060120:ATAC-STARR-seq lymphoblastoid active region 11607 [Gene]
  • LOC130060126:ATAC-STARR-seq lymphoblastoid active region 11608 [Gene]
  • LOC130060129:ATAC-STARR-seq lymphoblastoid active region 11610 [Gene]
  • LOC130060130:ATAC-STARR-seq lymphoblastoid active region 11611 [Gene]
  • LOC130060132:ATAC-STARR-seq lymphoblastoid active region 11614 [Gene]
  • LOC130060133:ATAC-STARR-seq lymphoblastoid active region 11615 [Gene]
  • LOC130060134:ATAC-STARR-seq lymphoblastoid active region 11616 [Gene]
  • LOC130060135:ATAC-STARR-seq lymphoblastoid active region 11617 [Gene]
  • LOC130060142:ATAC-STARR-seq lymphoblastoid active region 11618 [Gene]
  • LOC130060144:ATAC-STARR-seq lymphoblastoid active region 11619 [Gene]
  • LOC130060145:ATAC-STARR-seq lymphoblastoid active region 11620 [Gene]
  • LOC130060151:ATAC-STARR-seq lymphoblastoid active region 11623 [Gene]
  • LOC130060154:ATAC-STARR-seq lymphoblastoid active region 11627 [Gene]
  • LOC130060155:ATAC-STARR-seq lymphoblastoid active region 11628 [Gene]
  • LOC130060157:ATAC-STARR-seq lymphoblastoid active region 11629 [Gene]
  • LOC130060158:ATAC-STARR-seq lymphoblastoid active region 11630 [Gene]
  • LOC130060159:ATAC-STARR-seq lymphoblastoid active region 11631 [Gene]
  • LOC130060160:ATAC-STARR-seq lymphoblastoid active region 11632 [Gene]
  • LOC130060163:ATAC-STARR-seq lymphoblastoid active region 11634 [Gene]
  • LOC130060164:ATAC-STARR-seq lymphoblastoid active region 11635 [Gene]
  • LOC130060167:ATAC-STARR-seq lymphoblastoid active region 11638 [Gene]
  • LOC130060169:ATAC-STARR-seq lymphoblastoid active region 11639 [Gene]
  • LOC130060170:ATAC-STARR-seq lymphoblastoid active region 11640 [Gene]
  • LOC130060172:ATAC-STARR-seq lymphoblastoid active region 11641 [Gene]
  • LOC130060173:ATAC-STARR-seq lymphoblastoid active region 11643 [Gene]
  • LOC130060085:ATAC-STARR-seq lymphoblastoid silent region 8075 [Gene]
  • LOC130060086:ATAC-STARR-seq lymphoblastoid silent region 8076 [Gene]
  • LOC130060093:ATAC-STARR-seq lymphoblastoid silent region 8077 [Gene]
  • LOC130060094:ATAC-STARR-seq lymphoblastoid silent region 8078 [Gene]
  • LOC130060096:ATAC-STARR-seq lymphoblastoid silent region 8079 [Gene]
  • LOC130060099:ATAC-STARR-seq lymphoblastoid silent region 8081 [Gene]
  • LOC130060101:ATAC-STARR-seq lymphoblastoid silent region 8082 [Gene]
  • LOC130060102:ATAC-STARR-seq lymphoblastoid silent region 8083 [Gene]
  • LOC130060103:ATAC-STARR-seq lymphoblastoid silent region 8084 [Gene]
  • LOC130060104:ATAC-STARR-seq lymphoblastoid silent region 8085 [Gene]
  • LOC130060110:ATAC-STARR-seq lymphoblastoid silent region 8086 [Gene]
  • LOC130060113:ATAC-STARR-seq lymphoblastoid silent region 8088 [Gene]
  • LOC130060114:ATAC-STARR-seq lymphoblastoid silent region 8089 [Gene]
  • LOC130060116:ATAC-STARR-seq lymphoblastoid silent region 8090 [Gene]
  • LOC130060118:ATAC-STARR-seq lymphoblastoid silent region 8094 [Gene]
  • LOC130060119:ATAC-STARR-seq lymphoblastoid silent region 8097 [Gene]
  • LOC130060121:ATAC-STARR-seq lymphoblastoid silent region 8098 [Gene]
  • LOC130060122:ATAC-STARR-seq lymphoblastoid silent region 8100 [Gene]
  • LOC130060123:ATAC-STARR-seq lymphoblastoid silent region 8101 [Gene]
  • LOC130060124:ATAC-STARR-seq lymphoblastoid silent region 8102 [Gene]
  • LOC130060125:ATAC-STARR-seq lymphoblastoid silent region 8103 [Gene]
  • LOC130060127:ATAC-STARR-seq lymphoblastoid silent region 8105 [Gene]
  • LOC130060128:ATAC-STARR-seq lymphoblastoid silent region 8106 [Gene]
  • LOC130060131:ATAC-STARR-seq lymphoblastoid silent region 8107 [Gene]
  • LOC130060136:ATAC-STARR-seq lymphoblastoid silent region 8110 [Gene]
  • LOC130060137:ATAC-STARR-seq lymphoblastoid silent region 8111 [Gene]
  • LOC130060138:ATAC-STARR-seq lymphoblastoid silent region 8112 [Gene]
  • LOC130060139:ATAC-STARR-seq lymphoblastoid silent region 8113 [Gene]
  • LOC130060140:ATAC-STARR-seq lymphoblastoid silent region 8114 [Gene]
  • LOC130060141:ATAC-STARR-seq lymphoblastoid silent region 8115 [Gene]
  • LOC130060143:ATAC-STARR-seq lymphoblastoid silent region 8116 [Gene]
  • LOC130060146:ATAC-STARR-seq lymphoblastoid silent region 8120 [Gene]
  • LOC130060147:ATAC-STARR-seq lymphoblastoid silent region 8121 [Gene]
  • LOC130060148:ATAC-STARR-seq lymphoblastoid silent region 8122 [Gene]
  • LOC130060149:ATAC-STARR-seq lymphoblastoid silent region 8123 [Gene]
  • LOC130060150:ATAC-STARR-seq lymphoblastoid silent region 8124 [Gene]
  • LOC130060152:ATAC-STARR-seq lymphoblastoid silent region 8126 [Gene]
  • LOC130060153:ATAC-STARR-seq lymphoblastoid silent region 8127 [Gene]
  • LOC130060156:ATAC-STARR-seq lymphoblastoid silent region 8128 [Gene]
  • LOC130060161:ATAC-STARR-seq lymphoblastoid silent region 8129 [Gene]
  • LOC130060162:ATAC-STARR-seq lymphoblastoid silent region 8130 [Gene]
  • LOC130060165:ATAC-STARR-seq lymphoblastoid silent region 8132 [Gene]
  • LOC130060166:ATAC-STARR-seq lymphoblastoid silent region 8133 [Gene]
  • LOC130060168:ATAC-STARR-seq lymphoblastoid silent region 8134 [Gene]
  • LOC130060171:ATAC-STARR-seq lymphoblastoid silent region 8136 [Gene]
  • ATP1B2:ATPase Na+/K+ transporting subunit beta 2 [Gene - OMIM - HGNC]
  • ACAP1:ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [Gene - OMIM - HGNC]
  • BCL6B:BCL6B transcription repressor [Gene - OMIM - HGNC]
  • LOC126862481:BRD4-independent group 4 enhancer GRCh37_chr17:7405086-7406285 [Gene]
  • LOC126862483:BRD4-independent group 4 enhancer GRCh37_chr17:7589699-7590898 [Gene]
  • CLEC10A:C-type lectin domain containing 10A [Gene - OMIM - HGNC]
  • CD68:CD68 molecule [Gene - OMIM - HGNC]
  • LOC126862478:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:6919327-6920526 [Gene]
  • LOC126862480:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7132793-7133992 [Gene]
  • LOC126862482:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7414586-7415785 [Gene]
  • CTDNEP1:CTD nuclear envelope phosphatase 1 [Gene - OMIM - HGNC]
  • FBXO39:F-box protein 39 [Gene - OMIM - HGNC]
  • FXR2:FMR1 autosomal homolog 2 [Gene - OMIM - HGNC]
  • GPS2:G protein pathway suppressor 2 [Gene - OMIM - HGNC]
  • GABARAP:GABA type A receptor-associated protein [Gene - OMIM - HGNC]
  • LOC111556120:GATA motif-containing MPRA enhancer 34 [Gene]
  • KIAA0753:KIAA0753 [Gene - OMIM - HGNC]
  • LOC126862477:MED14-independent group 3 enhancer GRCh37_chr17:6757097-6758296 [Gene]
  • LOC126862479:MED14-independent group 3 enhancer GRCh37_chr17:7099412-7100611 [Gene]
  • MPDU1-AS1:MPDU1 antisense RNA 1 [Gene - HGNC]
  • LOC129390831:MPRA-validated peak2713 silencer [Gene]
  • LOC132090476:Neanderthal introgressed variant-containing enhancer experimental_47316 [Gene]
  • PHF23:PHD finger protein 23 [Gene - OMIM - HGNC]
  • PIMREG:PICALM interacting mitotic regulator [Gene - OMIM - HGNC]
  • PITPNM3:PITPNM family member 3 [Gene - OMIM - HGNC]
  • POLR2A:RNA polymerase II subunit A [Gene - OMIM - HGNC]
  • RNASEK-C17orf49:RNASEK-C17orf49 readthrough [Gene - HGNC]
  • SENP3-EIF4A1:SENP3-EIF4A1 readthrough (NMD candidate) [Gene - HGNC]
  • SPEM2:SPEM family member 2 [Gene - HGNC]
  • SPEM3:SPEM family member 3 [Gene - HGNC]
  • SOX15:SRY-box transcription factor 15 [Gene - OMIM - HGNC]
  • SENP3:SUMO specific peptidase 3 [Gene - OMIM - HGNC]
  • LOC121587572:Sharpr-MPRA regulatory region 10830 [Gene]
  • LOC121587573:Sharpr-MPRA regulatory region 12633 [Gene]
  • LOC112533664:Sharpr-MPRA regulatory region 1992 [Gene]
  • LOC121852920:Sharpr-MPRA regulatory region 7888 [Gene]
  • LOC112533657:Sharpr-MPRA regulatory regions 2431 and 6579 [Gene]
  • TMEM256-PLSCR3:TMEM256-PLSCR3 readthrough (NMD candidate) [Gene - HGNC]
  • TNFSF12:TNF superfamily member 12 [Gene - OMIM - HGNC]
  • TNFSF13:TNF superfamily member 13 [Gene - OMIM - HGNC]
  • TNFSF12-TNFSF13:TNFSF12-TNFSF13 readthrough [Gene - HGNC]
  • WRAP53:WD repeat containing antisense to TP53 [Gene - OMIM - HGNC]
  • XAF1:XIAP associated factor 1 [Gene - OMIM - HGNC]
  • YBX2:Y-box binding protein 2 [Gene - OMIM - HGNC]
  • ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
  • ALOX12:arachidonate 12-lipoxygenase, 12S type [Gene - OMIM - HGNC]
  • AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]
  • ASGR1:asialoglycoprotein receptor 1 [Gene - OMIM - HGNC]
  • ASGR2:asialoglycoprotein receptor 2 [Gene - OMIM - HGNC]
  • CHRNB1:cholinergic receptor nicotinic beta 1 subunit [Gene - OMIM - HGNC]
  • C17orf100:chromosome 17 open reading frame 100 [Gene - HGNC]
  • C17orf49:chromosome 17 open reading frame 49 [Gene - OMIM - HGNC]
  • CLDN7:claudin 7 [Gene - OMIM - HGNC]
  • DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
  • DVL2:dishevelled segment polarity protein 2 [Gene - OMIM - HGNC]
  • DNAH2:dynein axonemal heavy chain 2 [Gene - OMIM - HGNC]
  • ELP5:elongator acetyltransferase complex subunit 5 [Gene - OMIM - HGNC]
  • EFNB3:ephrin B3 [Gene - OMIM - HGNC]
  • EIF4A1:eukaryotic translation initiation factor 4A1 [Gene - OMIM - HGNC]
  • EIF5A:eukaryotic translation initiation factor 5A [Gene - OMIM - HGNC]
  • FGF11:fibroblast growth factor 11 [Gene - OMIM - HGNC]
  • MPDU1:mannose-P-dolichol utilization defect 1 [Gene - OMIM - HGNC]
  • MED31:mediator complex subunit 31 [Gene - OMIM - HGNC]
  • MIR195:microRNA 195 [Gene - OMIM - HGNC]
  • MIR324:microRNA 324 [Gene - HGNC]
  • MIR4520-1:microRNA 4520-1 [Gene - HGNC]
  • MIR4520-2:microRNA 4520-2 [Gene - HGNC]
  • MIR497:microRNA 497 [Gene - OMIM - HGNC]
  • MIR497HG:mir-497-195 cluster host gene [Gene - HGNC]
  • NEURL4:neuralized E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
  • NLGN2:neuroligin 2 [Gene - OMIM - HGNC]
  • PLSCR3:phospholipid scramblase 3 [Gene - OMIM - HGNC]
  • KCTD11:potassium channel tetramerization domain containing 11 [Gene - OMIM - HGNC]
  • RNASEK:ribonuclease K [Gene - OMIM - HGNC]
  • SHBG:sex hormone binding globulin [Gene - OMIM - HGNC]
  • SNORD10:small nucleolar RNA, C/D box 10 [Gene - HGNC]
  • SNORA48:small nucleolar RNA, H/ACA box 48 [Gene - HGNC]
  • SNORA67:small nucleolar RNA, H/ACA box 67 [Gene - HGNC]
  • SLC13A5:solute carrier family 13 member 5 [Gene - OMIM - HGNC]
  • SLC16A11:solute carrier family 16 member 11 [Gene - OMIM - HGNC]
  • SLC16A13:solute carrier family 16 member 13 [Gene - HGNC]
  • SLC2A4:solute carrier family 2 member 4 [Gene - OMIM - HGNC]
  • SLC35G6:solute carrier family 35 member G6 [Gene - HGNC]
  • SPEM1:spermatid maturation 1 [Gene - OMIM - HGNC]
  • SAT2:spermidine/spermine N1-acetyltransferase family member 2 [Gene - OMIM - HGNC]
  • TEKT1:tektin 1 [Gene - OMIM - HGNC]
  • TXNDC17:thioredoxin domain containing 17 [Gene - OMIM - HGNC]
  • TMEM102:transmembrane protein 102 [Gene - OMIM - HGNC]
  • TMEM256:transmembrane protein 256 [Gene - OMIM - HGNC]
  • TMEM95:transmembrane protein 95 [Gene - OMIM - HGNC]
  • TP53:tumor protein p53 [Gene - OMIM - HGNC]
  • TNK1:tyrosine kinase non receptor 1 [Gene - OMIM - HGNC]
  • LOC122526780:uncharacterized LOC122526780 [Gene]
  • ZBTB4:zinc finger and BTB domain containing 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17p13.2-13.1
Genomic location:
Preferred name:
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3
HGVS:
  • NC_000017.11:g.(?_6361393)_(7750863_?)dup
  • NC_000017.10:g.(?_6264713)_(7654181_?)dup
  • NC_000017.9:g.(?_6205437)_(7594906_?)dup
Links:
dbVar: nssv1495761; dbVar: nsv869427
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
SCV000178492ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Mar 9, 2012) 		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, SCV000178492.4

#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