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GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3 AND See cases

Germline classification:
Uncertain significance (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:
RCV000054009.5

Allele description [Variation Report for GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3]

GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3

Genes:
  • AKAP10:A-kinase anchoring protein 10 [Gene - OMIM - HGNC]
  • LOC130060443:ATAC-STARR-seq lymphoblastoid active region 11849 [Gene]
  • LOC130060446:ATAC-STARR-seq lymphoblastoid active region 11850 [Gene]
  • LOC130060447:ATAC-STARR-seq lymphoblastoid active region 11851 [Gene]
  • LOC130060449:ATAC-STARR-seq lymphoblastoid active region 11852 [Gene]
  • LOC130060450:ATAC-STARR-seq lymphoblastoid active region 11853 [Gene]
  • LOC130060451:ATAC-STARR-seq lymphoblastoid active region 11854 [Gene]
  • LOC130060452:ATAC-STARR-seq lymphoblastoid active region 11855 [Gene]
  • LOC130060454:ATAC-STARR-seq lymphoblastoid active region 11856 [Gene]
  • LOC130060458:ATAC-STARR-seq lymphoblastoid active region 11858 [Gene]
  • LOC130060465:ATAC-STARR-seq lymphoblastoid active region 11859 [Gene]
  • LOC130060467:ATAC-STARR-seq lymphoblastoid active region 11860 [Gene]
  • LOC130060469:ATAC-STARR-seq lymphoblastoid active region 11861 [Gene]
  • LOC130060471:ATAC-STARR-seq lymphoblastoid active region 11862 [Gene]
  • LOC130060472:ATAC-STARR-seq lymphoblastoid active region 11864 [Gene]
  • LOC130060476:ATAC-STARR-seq lymphoblastoid active region 11865 [Gene]
  • LOC130060477:ATAC-STARR-seq lymphoblastoid active region 11867 [Gene]
  • LOC130060478:ATAC-STARR-seq lymphoblastoid active region 11868 [Gene]
  • LOC130060482:ATAC-STARR-seq lymphoblastoid active region 11869 [Gene]
  • LOC130060485:ATAC-STARR-seq lymphoblastoid active region 11874 [Gene]
  • LOC130060486:ATAC-STARR-seq lymphoblastoid active region 11875 [Gene]
  • LOC130060487:ATAC-STARR-seq lymphoblastoid active region 11876 [Gene]
  • LOC130060489:ATAC-STARR-seq lymphoblastoid active region 11877 [Gene]
  • LOC130060490:ATAC-STARR-seq lymphoblastoid active region 11879 [Gene]
  • LOC130060491:ATAC-STARR-seq lymphoblastoid active region 11880 [Gene]
  • LOC130060494:ATAC-STARR-seq lymphoblastoid active region 11881 [Gene]
  • LOC130060497:ATAC-STARR-seq lymphoblastoid active region 11882 [Gene]
  • LOC130060500:ATAC-STARR-seq lymphoblastoid active region 11883 [Gene]
  • LOC130060501:ATAC-STARR-seq lymphoblastoid active region 11884 [Gene]
  • LOC130060442:ATAC-STARR-seq lymphoblastoid silent region 8283 [Gene]
  • LOC130060444:ATAC-STARR-seq lymphoblastoid silent region 8284 [Gene]
  • LOC130060445:ATAC-STARR-seq lymphoblastoid silent region 8285 [Gene]
  • LOC130060448:ATAC-STARR-seq lymphoblastoid silent region 8286 [Gene]
  • LOC130060453:ATAC-STARR-seq lymphoblastoid silent region 8287 [Gene]
  • LOC130060455:ATAC-STARR-seq lymphoblastoid silent region 8288 [Gene]
  • LOC130060456:ATAC-STARR-seq lymphoblastoid silent region 8289 [Gene]
  • LOC130060457:ATAC-STARR-seq lymphoblastoid silent region 8290 [Gene]
  • LOC130060459:ATAC-STARR-seq lymphoblastoid silent region 8291 [Gene]
  • LOC130060460:ATAC-STARR-seq lymphoblastoid silent region 8292 [Gene]
  • LOC130060461:ATAC-STARR-seq lymphoblastoid silent region 8293 [Gene]
  • LOC130060462:ATAC-STARR-seq lymphoblastoid silent region 8294 [Gene]
  • LOC130060463:ATAC-STARR-seq lymphoblastoid silent region 8295 [Gene]
  • LOC130060464:ATAC-STARR-seq lymphoblastoid silent region 8296 [Gene]
  • LOC130060466:ATAC-STARR-seq lymphoblastoid silent region 8297 [Gene]
  • LOC130060468:ATAC-STARR-seq lymphoblastoid silent region 8298 [Gene]
  • LOC130060470:ATAC-STARR-seq lymphoblastoid silent region 8299 [Gene]
  • LOC130060473:ATAC-STARR-seq lymphoblastoid silent region 8302 [Gene]
  • LOC130060474:ATAC-STARR-seq lymphoblastoid silent region 8303 [Gene]
  • LOC130060475:ATAC-STARR-seq lymphoblastoid silent region 8304 [Gene]
  • LOC130060479:ATAC-STARR-seq lymphoblastoid silent region 8306 [Gene]
  • LOC130060480:ATAC-STARR-seq lymphoblastoid silent region 8307 [Gene]
  • LOC130060481:ATAC-STARR-seq lymphoblastoid silent region 8308 [Gene]
  • LOC130060483:ATAC-STARR-seq lymphoblastoid silent region 8309 [Gene]
  • LOC130060484:ATAC-STARR-seq lymphoblastoid silent region 8310 [Gene]
  • LOC130060488:ATAC-STARR-seq lymphoblastoid silent region 8311 [Gene]
  • LOC130060492:ATAC-STARR-seq lymphoblastoid silent region 8313 [Gene]
  • LOC130060493:ATAC-STARR-seq lymphoblastoid silent region 8314 [Gene]
  • LOC130060495:ATAC-STARR-seq lymphoblastoid silent region 8315 [Gene]
  • LOC130060496:ATAC-STARR-seq lymphoblastoid silent region 8316 [Gene]
  • LOC130060498:ATAC-STARR-seq lymphoblastoid silent region 8317 [Gene]
  • LOC130060499:ATAC-STARR-seq lymphoblastoid silent region 8318 [Gene]
  • LOC130060502:ATAC-STARR-seq lymphoblastoid silent region 8320 [Gene]
  • LOC130060503:ATAC-STARR-seq lymphoblastoid silent region 8321 [Gene]
  • B9D1:B9 domain containing 1 [Gene - OMIM - HGNC]
  • LOC126862518:BRD4-independent group 4 enhancer GRCh37_chr17:20987896-20989095 [Gene]
  • CCDC144NL-AS1:CCDC144NL antisense RNA 1 [Gene - HGNC]
  • CDRT15L2:CMT1A duplicated region transcript 15 like 2 [Gene - HGNC]
  • EPN2-AS1:EPN2 antisense RNA 1 [Gene - HGNC]
  • EPN2-IT1:EPN2 intronic transcript 1 [Gene - HGNC]
  • GRAPL-AS1:GRAPL antisense RNA 1 [Gene - HGNC]
  • GRAPL:GRB2 related adaptor protein like [Gene - HGNC]
  • LOC106020712:LCR17pD recombination region [Gene]
  • LOC126862517:MED14-independent group 3 enhancer GRCh37_chr17:19656044-19657243 [Gene]
  • NATD1:N-acetyltransferase domain containing 1 [Gene - HGNC]
  • LOC126862519:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:21190872-21192071 [Gene]
  • SPECC1-DT:SPECC1 divergent transcript [Gene - HGNC]
  • LOC125177440:Sharpr-MPRA regulatory region 15661 [Gene]
  • LOC125177438:Sharpr-MPRA regulatory region 1687 [Gene]
  • LOC121852925:Sharpr-MPRA regulatory region 2588 [Gene]
  • LOC125177439:Sharpr-MPRA regulatory region 374 [Gene]
  • LOC125177437:Sharpr-MPRA regulatory region 535 [Gene]
  • LOC121852926:Sharpr-MPRA regulatory region 5861 [Gene]
  • LOC121587581:Sharpr-MPRA regulatory region 5958 [Gene]
  • TMEM11-DT:TMEM11 divergent transcript [Gene - HGNC]
  • ALDH3A1:aldehyde dehydrogenase 3 family member A1 [Gene - OMIM - HGNC]
  • ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
  • DHRS7B:dehydrogenase/reductase 7B [Gene - OMIM - HGNC]
  • EPN2:epsin 2 [Gene - OMIM - HGNC]
  • FAM106B:family with sequence similarity 106 member B [Gene - HGNC]
  • LGALS9B:galectin 9B [Gene - HGNC]
  • LINC01563:long intergenic non-protein coding RNA 1563 [Gene - HGNC]
  • LINC02088:long intergenic non-protein coding RNA 2088 [Gene - HGNC]
  • LINC02094:long intergenic non-protein coding RNA 2094 [Gene - HGNC]
  • LINC02693:long intergenic non-protein coding RNA 2693 [Gene - HGNC]
  • MIR1180:microRNA 1180 [Gene - HGNC]
  • MFAP4:microfibril associated protein 4 [Gene - OMIM - HGNC]
  • MAPK7:mitogen-activated protein kinase 7 [Gene - OMIM - HGNC]
  • MAP2K3:mitogen-activated protein kinase kinase 3 [Gene - OMIM - HGNC]
  • KCNJ12:potassium inwardly rectifying channel subfamily J member 12 [Gene - OMIM - HGNC]
  • LOC108745276:proximal SMS-REP block A recombination region [Gene]
  • LOC106020710:proximal SMS-REP block C recombination region [Gene]
  • RNF112:ring finger protein 112 [Gene - OMIM - HGNC]
  • SNORD3A:small nucleolar RNA, C/D box 3A [Gene - OMIM - HGNC]
  • SNORD3C:small nucleolar RNA, C/D box 3C [Gene - HGNC]
  • SNORD3D:small nucleolar RNA, C/D box 3D [Gene - HGNC]
  • SNORA59B:small nucleolar RNA, H/ACA box 59B [Gene - HGNC]
  • SLC47A1:solute carrier family 47 member 1 [Gene - OMIM - HGNC]
  • SLC47A2:solute carrier family 47 member 2 [Gene - OMIM - HGNC]
  • SPECC1:sperm antigen with calponin homology and coiled-coil domains 1 [Gene - OMIM - HGNC]
  • TRG-CCC3-1:tRNA-Gly (anticodon CCC) 3-1 [Gene - HGNC]
  • TRW-CCA2-1:tRNA-Trp (anticodon CCA) 2-1 [Gene - HGNC]
  • TMEM11:transmembrane protein 11 [Gene - OMIM - HGNC]
  • USP22:ubiquitin specific peptidase 22 [Gene - OMIM - HGNC]
  • ULK2:unc-51 like autophagy activating kinase 2 [Gene - OMIM - HGNC]
  • LOC105371574:uncharacterized LOC105371574 [Gene]
  • LOC339260:uncharacterized LOC339260 [Gene]
  • LOC102724624:uncharacterized protein ENSP00000382042-like [Gene]
  • LOC388436:uncharacterized protein ENSP00000382042 [Gene]
Variant type:
copy number gain
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3
HGVS:
  • NC_000017.11:g.(?_19070690)_(21619442_?)dup
  • NC_000017.10:g.(?_18974003)_(21522709_?)dup
  • NC_000017.9:g.(?_18914728)_(21463302_?)dup
Links:
dbVar: nssv580937; dbVar: nsv532676
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
SCV000081372GeneDx
criteria provided, single submitter

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

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, SCV000081372.4

#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