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GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 10, 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:
RCV000143027.5

Allele description [Variation Report for GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1]

GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1

Genes:
  • LOC130060585:ATAC-STARR-seq lymphoblastoid active region 11959 [Gene]
  • LOC130060586:ATAC-STARR-seq lymphoblastoid active region 11961 [Gene]
  • LOC130060587:ATAC-STARR-seq lymphoblastoid active region 11962 [Gene]
  • LOC130060589:ATAC-STARR-seq lymphoblastoid active region 11964 [Gene]
  • LOC130060590:ATAC-STARR-seq lymphoblastoid active region 11965 [Gene]
  • LOC130060592:ATAC-STARR-seq lymphoblastoid active region 11966 [Gene]
  • LOC130060593:ATAC-STARR-seq lymphoblastoid active region 11967 [Gene]
  • LOC130060596:ATAC-STARR-seq lymphoblastoid active region 11968 [Gene]
  • LOC130060597:ATAC-STARR-seq lymphoblastoid active region 11969 [Gene]
  • LOC130060600:ATAC-STARR-seq lymphoblastoid active region 11971 [Gene]
  • LOC130060601:ATAC-STARR-seq lymphoblastoid active region 11972 [Gene]
  • LOC130060602:ATAC-STARR-seq lymphoblastoid active region 11974 [Gene]
  • LOC130060603:ATAC-STARR-seq lymphoblastoid active region 11975 [Gene]
  • LOC130060605:ATAC-STARR-seq lymphoblastoid active region 11976 [Gene]
  • LOC130060606:ATAC-STARR-seq lymphoblastoid active region 11977 [Gene]
  • LOC130060607:ATAC-STARR-seq lymphoblastoid active region 11978 [Gene]
  • LOC130060608:ATAC-STARR-seq lymphoblastoid active region 11979 [Gene]
  • LOC130060611:ATAC-STARR-seq lymphoblastoid active region 11980 [Gene]
  • LOC130060616:ATAC-STARR-seq lymphoblastoid active region 11982 [Gene]
  • LOC130060620:ATAC-STARR-seq lymphoblastoid active region 11984 [Gene]
  • LOC130060623:ATAC-STARR-seq lymphoblastoid active region 11985 [Gene]
  • LOC130060624:ATAC-STARR-seq lymphoblastoid active region 11986 [Gene]
  • LOC130060625:ATAC-STARR-seq lymphoblastoid active region 11987 [Gene]
  • LOC130060631:ATAC-STARR-seq lymphoblastoid active region 11991 [Gene]
  • LOC130060632:ATAC-STARR-seq lymphoblastoid active region 11992 [Gene]
  • LOC130060635:ATAC-STARR-seq lymphoblastoid active region 11994 [Gene]
  • LOC130060636:ATAC-STARR-seq lymphoblastoid active region 11995 [Gene]
  • LOC130060637:ATAC-STARR-seq lymphoblastoid active region 11996 [Gene]
  • LOC130060638:ATAC-STARR-seq lymphoblastoid active region 11997 [Gene]
  • LOC130060639:ATAC-STARR-seq lymphoblastoid active region 11998 [Gene]
  • LOC130060640:ATAC-STARR-seq lymphoblastoid active region 11999 [Gene]
  • LOC130060642:ATAC-STARR-seq lymphoblastoid active region 12000 [Gene]
  • LOC130060643:ATAC-STARR-seq lymphoblastoid active region 12001 [Gene]
  • LOC130060644:ATAC-STARR-seq lymphoblastoid active region 12002 [Gene]
  • LOC130060648:ATAC-STARR-seq lymphoblastoid active region 12003 [Gene]
  • LOC130060650:ATAC-STARR-seq lymphoblastoid active region 12004 [Gene]
  • LOC130060651:ATAC-STARR-seq lymphoblastoid active region 12005 [Gene]
  • LOC130060652:ATAC-STARR-seq lymphoblastoid active region 12007 [Gene]
  • LOC130060654:ATAC-STARR-seq lymphoblastoid active region 12008 [Gene]
  • LOC130060655:ATAC-STARR-seq lymphoblastoid active region 12009 [Gene]
  • LOC130060656:ATAC-STARR-seq lymphoblastoid active region 12010 [Gene]
  • LOC130060657:ATAC-STARR-seq lymphoblastoid active region 12011 [Gene]
  • LOC130060660:ATAC-STARR-seq lymphoblastoid active region 12012 [Gene]
  • LOC130060661:ATAC-STARR-seq lymphoblastoid active region 12013 [Gene]
  • LOC130060662:ATAC-STARR-seq lymphoblastoid active region 12014 [Gene]
  • LOC130060663:ATAC-STARR-seq lymphoblastoid active region 12015 [Gene]
  • LOC130060664:ATAC-STARR-seq lymphoblastoid active region 12016 [Gene]
  • LOC130060666:ATAC-STARR-seq lymphoblastoid active region 12017 [Gene]
  • LOC130060667:ATAC-STARR-seq lymphoblastoid active region 12019 [Gene]
  • LOC130060669:ATAC-STARR-seq lymphoblastoid active region 12020 [Gene]
  • LOC130060670:ATAC-STARR-seq lymphoblastoid active region 12021 [Gene]
  • LOC130060673:ATAC-STARR-seq lymphoblastoid active region 12023 [Gene]
  • LOC130060674:ATAC-STARR-seq lymphoblastoid active region 12024 [Gene]
  • LOC130060675:ATAC-STARR-seq lymphoblastoid active region 12025 [Gene]
  • LOC130060676:ATAC-STARR-seq lymphoblastoid active region 12026 [Gene]
  • LOC130060679:ATAC-STARR-seq lymphoblastoid active region 12027 [Gene]
  • LOC130060680:ATAC-STARR-seq lymphoblastoid active region 12028 [Gene]
  • LOC130060681:ATAC-STARR-seq lymphoblastoid active region 12029 [Gene]
  • LOC130060584:ATAC-STARR-seq lymphoblastoid silent region 8362 [Gene]
  • LOC130060588:ATAC-STARR-seq lymphoblastoid silent region 8364 [Gene]
  • LOC130060591:ATAC-STARR-seq lymphoblastoid silent region 8365 [Gene]
  • LOC130060594:ATAC-STARR-seq lymphoblastoid silent region 8366 [Gene]
  • LOC130060595:ATAC-STARR-seq lymphoblastoid silent region 8367 [Gene]
  • LOC130060598:ATAC-STARR-seq lymphoblastoid silent region 8369 [Gene]
  • LOC130060599:ATAC-STARR-seq lymphoblastoid silent region 8370 [Gene]
  • LOC130060604:ATAC-STARR-seq lymphoblastoid silent region 8372 [Gene]
  • LOC130060609:ATAC-STARR-seq lymphoblastoid silent region 8373 [Gene]
  • LOC130060610:ATAC-STARR-seq lymphoblastoid silent region 8374 [Gene]
  • LOC130060612:ATAC-STARR-seq lymphoblastoid silent region 8375 [Gene]
  • LOC130060613:ATAC-STARR-seq lymphoblastoid silent region 8376 [Gene]
  • LOC130060614:ATAC-STARR-seq lymphoblastoid silent region 8377 [Gene]
  • LOC130060615:ATAC-STARR-seq lymphoblastoid silent region 8379 [Gene]
  • LOC130060617:ATAC-STARR-seq lymphoblastoid silent region 8382 [Gene]
  • LOC130060618:ATAC-STARR-seq lymphoblastoid silent region 8384 [Gene]
  • LOC130060619:ATAC-STARR-seq lymphoblastoid silent region 8385 [Gene]
  • LOC130060621:ATAC-STARR-seq lymphoblastoid silent region 8386 [Gene]
  • LOC130060622:ATAC-STARR-seq lymphoblastoid silent region 8387 [Gene]
  • LOC130060626:ATAC-STARR-seq lymphoblastoid silent region 8388 [Gene]
  • LOC130060627:ATAC-STARR-seq lymphoblastoid silent region 8389 [Gene]
  • LOC130060628:ATAC-STARR-seq lymphoblastoid silent region 8390 [Gene]
  • LOC130060629:ATAC-STARR-seq lymphoblastoid silent region 8391 [Gene]
  • LOC130060630:ATAC-STARR-seq lymphoblastoid silent region 8392 [Gene]
  • LOC130060633:ATAC-STARR-seq lymphoblastoid silent region 8394 [Gene]
  • LOC130060634:ATAC-STARR-seq lymphoblastoid silent region 8395 [Gene]
  • LOC130060641:ATAC-STARR-seq lymphoblastoid silent region 8398 [Gene]
  • LOC130060645:ATAC-STARR-seq lymphoblastoid silent region 8402 [Gene]
  • LOC130060646:ATAC-STARR-seq lymphoblastoid silent region 8403 [Gene]
  • LOC130060647:ATAC-STARR-seq lymphoblastoid silent region 8404 [Gene]
  • LOC130060649:ATAC-STARR-seq lymphoblastoid silent region 8405 [Gene]
  • LOC130060653:ATAC-STARR-seq lymphoblastoid silent region 8407 [Gene]
  • LOC130060658:ATAC-STARR-seq lymphoblastoid silent region 8410 [Gene]
  • LOC130060659:ATAC-STARR-seq lymphoblastoid silent region 8411 [Gene]
  • LOC130060665:ATAC-STARR-seq lymphoblastoid silent region 8412 [Gene]
  • LOC130060668:ATAC-STARR-seq lymphoblastoid silent region 8414 [Gene]
  • LOC130060671:ATAC-STARR-seq lymphoblastoid silent region 8416 [Gene]
  • LOC130060672:ATAC-STARR-seq lymphoblastoid silent region 8417 [Gene]
  • LOC130060677:ATAC-STARR-seq lymphoblastoid silent region 8418 [Gene]
  • LOC130060678:ATAC-STARR-seq lymphoblastoid silent region 8419 [Gene]
  • LOC130060682:ATAC-STARR-seq lymphoblastoid silent region 8422 [Gene]
  • LOC130060683:ATAC-STARR-seq lymphoblastoid silent region 8423 [Gene]
  • ATAD5:ATPase family AAA domain containing 5 [Gene - OMIM - HGNC]
  • ADAP2:ArfGAP with dual PH domains 2 [Gene - OMIM - HGNC]
  • LOC126862529:BRD4-independent group 4 enhancer GRCh37_chr17:28443345-28444544 [Gene]
  • LOC126862531:BRD4-independent group 4 enhancer GRCh37_chr17:30088656-30089855 [Gene]
  • LOC126862530:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:28575475-28576674 [Gene]
  • EFCAB5:EF-hand calcium binding domain 5 [Gene - HGNC]
  • GIT1:GIT ArfGAP 1 [Gene - OMIM - HGNC]
  • LOC126862528:MED14-independent group 3 enhancer GRCh37_chr17:28367348-28368547 [Gene]
  • MIR365BHG:MIR365B and MIR4725 host gene [Gene - HGNC]
  • MIR4733HG:MIR4733 host gene [Gene - HGNC]
  • LOC129390847:MPRA-validated peak2781 silencer [Gene]
  • LOC129390848:MPRA-validated peak2783 silencer [Gene]
  • LOC129390849:MPRA-validated peak2787 silencer [Gene]
  • LOC129390850:MPRA-validated peak2795 silencer [Gene]
  • LOC129390851:MPRA-validated peak2796 silencer [Gene]
  • LOC129390852:MPRA-validated peak2801 silencer [Gene]
  • LOC111811965:NF1 (neurofibromin 1) promoter region [Gene]
  • LOC108281169:NF1 intron 1 Alu-mediated recombination region [Gene]
  • LOC108281170:NF1 intron 2 Alu-mediated recombination region [Gene]
  • LOC108281180:NF1 intron 3 Alu-mediated recombination region [Gene]
  • LOC108281182:NF1 intron 50 Alu-mediated recombination region [Gene]
  • LOC108281181:NF1 intron 8 Alu-mediated recombination region [Gene]
  • LOC106113036:NF1-REPa PRS1 recombination region [Gene]
  • LOC108771181:NF1-REPa PRS2 recombination region [Gene]
  • LOC108771183:NF1-REPa UWA160-1 recombination region [Gene]
  • LOC108783647:NF1-REPb PRS3 recombination region [Gene]
  • LOC106113037:NF1-REPc PRS1 recombination region [Gene]
  • LOC108771182:NF1-REPc PRS2 recombination region [Gene]
  • LOC108783648:NF1-REPc PRS3 recombination region [Gene]
  • LOC108771184:NF1-REPc UWA160-1 recombination region [Gene]
  • LOC125177447:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:27481880-27483079 [Gene]
  • LOC126862527:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:27950531-27951730 [Gene]
  • PHF12:PHD finger protein 12 [Gene - OMIM - HGNC]
  • RAB11FIP4:RAB11 family interacting protein 4 [Gene - OMIM - HGNC]
  • LOC108783653:SUZ12 PRS4 recombination region [Gene]
  • SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
  • LOC108783652:SUZ12P1 PRS4 recombination region [Gene]
  • LOC121587586:Sharpr-MPRA regulatory region 11348 [Gene]
  • LOC112529905:Sharpr-MPRA regulatory region 11433 [Gene]
  • LOC125177446:Sharpr-MPRA regulatory region 1183 [Gene]
  • LOC112529904:Sharpr-MPRA regulatory region 12866 [Gene]
  • LOC125177450:Sharpr-MPRA regulatory region 15362 [Gene]
  • LOC125177445:Sharpr-MPRA regulatory region 1762 [Gene]
  • LOC125177452:Sharpr-MPRA regulatory region 2970 [Gene]
  • LOC125177449:Sharpr-MPRA regulatory region 3195 [Gene]
  • LOC112529906:Sharpr-MPRA regulatory region 3347 [Gene]
  • LOC121587584:Sharpr-MPRA regulatory region 390 [Gene]
  • LOC121587585:Sharpr-MPRA regulatory region 4018 [Gene]
  • LOC125177453:Sharpr-MPRA regulatory region 474 [Gene]
  • LOC112529907:Sharpr-MPRA regulatory region 4911 [Gene]
  • LOC125177448:Sharpr-MPRA regulatory region 6423 [Gene]
  • LOC125177455:Sharpr-MPRA regulatory region 6529 [Gene]
  • LOC125177454:Sharpr-MPRA regulatory region 6872 [Gene]
  • LOC125177451:Sharpr-MPRA regulatory region 7119 [Gene]
  • LOC113939959:Sharpr-MPRA regulatory region 7669 [Gene]
  • LOC113939960:Sharpr-MPRA regulatory region 9359 [Gene]
  • TAOK1:TAO kinase 1 [Gene - OMIM - HGNC]
  • TBC1D29P:TBC1 domain family member 29, pseudogene [Gene - HGNC]
  • UTP6:UTP6 small subunit processome component [Gene - HGNC]
  • LOC110121426:VISTA enhancer hs1675 [Gene]
  • ABHD15:abhydrolase domain containing 15 [Gene - OMIM - HGNC]
  • ANKRD13B:ankyrin repeat domain 13B [Gene - OMIM - HGNC]
  • BLMH:bleomycin hydrolase [Gene - OMIM - HGNC]
  • CPD:carboxypeptidase D [Gene - OMIM - HGNC]
  • C17orf75:chromosome 17 open reading frame 75 [Gene - HGNC]
  • COPRS:coordinator of PRMT5 and differentiation stimulator [Gene - HGNC]
  • CORO6:coronin 6 [Gene - HGNC]
  • CRYBA1:crystallin beta A1 [Gene - OMIM - HGNC]
  • CDK5R1:cyclin dependent kinase 5 regulatory subunit 1 [Gene - OMIM - HGNC]
  • CRLF3:cytokine receptor like factor 3 [Gene - OMIM - HGNC]
  • EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
  • EVI2B:ecotropic viral integration site 2B [Gene - OMIM - HGNC]
  • GOSR1:golgi SNAP receptor complex member 1 [Gene - OMIM - HGNC]
  • LRRC37B:leucine rich repeat containing 37B [Gene - OMIM - HGNC]
  • MIR193A:microRNA 193a [Gene - OMIM - HGNC]
  • MIR3184:microRNA 3184 [Gene - HGNC]
  • MIR365B:microRNA 365b [Gene - HGNC]
  • MIR423:microRNA 423 [Gene - HGNC]
  • MIR4523:microRNA 4523 [Gene - HGNC]
  • MIR4724:microRNA 4724 [Gene - HGNC]
  • MIR4725:microRNA 4725 [Gene - HGNC]
  • MIR4733:microRNA 4733 [Gene - HGNC]
  • MIR632:microRNA 632 [Gene - HGNC]
  • MYO18A:myosin XVIIIA [Gene - OMIM - OMIM - HGNC]
  • NF1:neurofibromin 1 [Gene - OMIM - HGNC]
  • NUFIP2:nuclear FMR1 interacting protein 2 [Gene - OMIM - HGNC]
  • NSRP1:nuclear speckle splicing regulatory protein 1 [Gene - OMIM - HGNC]
  • OMG:oligodendrocyte myelin glycoprotein [Gene - OMIM - HGNC]
  • PIPOX:pipecolic acid and sarcosine oxidase [Gene - OMIM - HGNC]
  • PSMD11:proteasome 26S subunit, non-ATPase 11 [Gene - OMIM - HGNC]
  • RHOT1:ras homolog family member T1 [Gene - OMIM - HGNC]
  • RHBDL3:rhomboid like 3 [Gene - OMIM - HGNC]
  • RNF135:ring finger protein 135 [Gene - OMIM - HGNC]
  • SEZ6:seizure related 6 homolog [Gene - OMIM - HGNC]
  • STIN2-VNTR:serotonin transporter intronic VNTR enhancer [Gene]
  • SSH2:slingshot protein phosphatase 2 [Gene - OMIM - HGNC]
  • LOC110806262:solute carrier family 6 member 4 gene promoter [Gene]
  • SLC6A4:solute carrier family 6 member 4 [Gene - OMIM - HGNC]
  • TRT-CGT4-1:tRNA-Thr (anticodon CGT) 4-1 [Gene - HGNC]
  • TEFM:transcription elongation factor, mitochondrial [Gene - OMIM - HGNC]
  • TMIGD1:transmembrane and immunoglobulin domain containing 1 [Gene - HGNC]
  • TP53I13:tumor protein p53 inducible protein 13 [Gene - HGNC]
  • LOC105371730:uncharacterized LOC105371730 [Gene]
  • ZNF207:zinc finger protein 207 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1
HGVS:
  • NC_000017.11:g.(?_28947825)_(32490020_?)del
  • NC_000017.10:g.(?_27274843)_(30817038_?)del
  • NC_000017.9:g.(?_24298969)_(27841151_?)del
Links:
dbVar: nssv1604141; dbVar: nsv916909
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
SCV000180003ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 10, 2012) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande 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, SCV000180003.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024