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GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000135774.5

Allele description [Variation Report for GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1]

GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1

Genes:
  • NT5M:5',3'-nucleotidase, mitochondrial [Gene - OMIM - HGNC]
  • LOC130060343:ATAC-STARR-seq lymphoblastoid active region 11770 [Gene]
  • LOC130060344:ATAC-STARR-seq lymphoblastoid active region 11772 [Gene]
  • LOC130060345:ATAC-STARR-seq lymphoblastoid active region 11773 [Gene]
  • LOC130060347:ATAC-STARR-seq lymphoblastoid active region 11774 [Gene]
  • LOC130060348:ATAC-STARR-seq lymphoblastoid active region 11775 [Gene]
  • LOC130060349:ATAC-STARR-seq lymphoblastoid active region 11776 [Gene]
  • LOC130060350:ATAC-STARR-seq lymphoblastoid active region 11777 [Gene]
  • LOC130060351:ATAC-STARR-seq lymphoblastoid active region 11778 [Gene]
  • LOC130060352:ATAC-STARR-seq lymphoblastoid active region 11779 [Gene]
  • LOC130060353:ATAC-STARR-seq lymphoblastoid active region 11780 [Gene]
  • LOC130060354:ATAC-STARR-seq lymphoblastoid active region 11781 [Gene]
  • LOC130060355:ATAC-STARR-seq lymphoblastoid active region 11784 [Gene]
  • LOC130060356:ATAC-STARR-seq lymphoblastoid active region 11785 [Gene]
  • LOC130060357:ATAC-STARR-seq lymphoblastoid active region 11786 [Gene]
  • LOC130060359:ATAC-STARR-seq lymphoblastoid active region 11787 [Gene]
  • LOC130060360:ATAC-STARR-seq lymphoblastoid active region 11788 [Gene]
  • LOC130060361:ATAC-STARR-seq lymphoblastoid active region 11789 [Gene]
  • LOC130060362:ATAC-STARR-seq lymphoblastoid active region 11790 [Gene]
  • LOC130060363:ATAC-STARR-seq lymphoblastoid active region 11791 [Gene]
  • LOC130060364:ATAC-STARR-seq lymphoblastoid active region 11792 [Gene]
  • LOC130060366:ATAC-STARR-seq lymphoblastoid active region 11793 [Gene]
  • LOC130060370:ATAC-STARR-seq lymphoblastoid active region 11794 [Gene]
  • LOC130060371:ATAC-STARR-seq lymphoblastoid active region 11795 [Gene]
  • LOC130060373:ATAC-STARR-seq lymphoblastoid active region 11796 [Gene]
  • LOC130060374:ATAC-STARR-seq lymphoblastoid active region 11797 [Gene]
  • LOC130060375:ATAC-STARR-seq lymphoblastoid active region 11798 [Gene]
  • LOC130060379:ATAC-STARR-seq lymphoblastoid active region 11799 [Gene]
  • LOC130060380:ATAC-STARR-seq lymphoblastoid active region 11800 [Gene]
  • LOC130060384:ATAC-STARR-seq lymphoblastoid active region 11802 [Gene]
  • LOC130060385:ATAC-STARR-seq lymphoblastoid active region 11803 [Gene]
  • LOC130060386:ATAC-STARR-seq lymphoblastoid active region 11804 [Gene]
  • LOC130060389:ATAC-STARR-seq lymphoblastoid active region 11805 [Gene]
  • LOC130060390:ATAC-STARR-seq lymphoblastoid active region 11806 [Gene]
  • LOC130060391:ATAC-STARR-seq lymphoblastoid active region 11807 [Gene]
  • LOC130060392:ATAC-STARR-seq lymphoblastoid active region 11808 [Gene]
  • LOC130060393:ATAC-STARR-seq lymphoblastoid active region 11809 [Gene]
  • LOC130060394:ATAC-STARR-seq lymphoblastoid active region 11810 [Gene]
  • LOC130060398:ATAC-STARR-seq lymphoblastoid active region 11811 [Gene]
  • LOC130060400:ATAC-STARR-seq lymphoblastoid active region 11812 [Gene]
  • LOC130060401:ATAC-STARR-seq lymphoblastoid active region 11813 [Gene]
  • LOC130060403:ATAC-STARR-seq lymphoblastoid active region 11815 [Gene]
  • LOC130060404:ATAC-STARR-seq lymphoblastoid active region 11816 [Gene]
  • LOC130060405:ATAC-STARR-seq lymphoblastoid active region 11817 [Gene]
  • LOC130060406:ATAC-STARR-seq lymphoblastoid active region 11818 [Gene]
  • LOC130060408:ATAC-STARR-seq lymphoblastoid active region 11819 [Gene]
  • LOC130060409:ATAC-STARR-seq lymphoblastoid active region 11820 [Gene]
  • LOC130060410:ATAC-STARR-seq lymphoblastoid active region 11821 [Gene]
  • LOC130060411:ATAC-STARR-seq lymphoblastoid active region 11822 [Gene]
  • LOC130060414:ATAC-STARR-seq lymphoblastoid active region 11823 [Gene]
  • LOC130060415:ATAC-STARR-seq lymphoblastoid active region 11824 [Gene]
  • LOC130060417:ATAC-STARR-seq lymphoblastoid active region 11827 [Gene]
  • LOC130060418:ATAC-STARR-seq lymphoblastoid active region 11828 [Gene]
  • LOC130060419:ATAC-STARR-seq lymphoblastoid active region 11829 [Gene]
  • LOC130060420:ATAC-STARR-seq lymphoblastoid active region 11830 [Gene]
  • LOC130060422:ATAC-STARR-seq lymphoblastoid active region 11831 [Gene]
  • LOC130060425:ATAC-STARR-seq lymphoblastoid active region 11833 [Gene]
  • LOC130060426:ATAC-STARR-seq lymphoblastoid active region 11834 [Gene]
  • LOC130060427:ATAC-STARR-seq lymphoblastoid active region 11836 [Gene]
  • LOC130060346:ATAC-STARR-seq lymphoblastoid silent region 8230 [Gene]
  • LOC130060358:ATAC-STARR-seq lymphoblastoid silent region 8233 [Gene]
  • LOC130060365:ATAC-STARR-seq lymphoblastoid silent region 8234 [Gene]
  • LOC130060367:ATAC-STARR-seq lymphoblastoid silent region 8235 [Gene]
  • LOC130060368:ATAC-STARR-seq lymphoblastoid silent region 8236 [Gene]
  • LOC130060369:ATAC-STARR-seq lymphoblastoid silent region 8237 [Gene]
  • LOC130060372:ATAC-STARR-seq lymphoblastoid silent region 8239 [Gene]
  • LOC130060376:ATAC-STARR-seq lymphoblastoid silent region 8240 [Gene]
  • LOC130060377:ATAC-STARR-seq lymphoblastoid silent region 8241 [Gene]
  • LOC130060378:ATAC-STARR-seq lymphoblastoid silent region 8242 [Gene]
  • LOC130060381:ATAC-STARR-seq lymphoblastoid silent region 8243 [Gene]
  • LOC130060382:ATAC-STARR-seq lymphoblastoid silent region 8244 [Gene]
  • LOC130060383:ATAC-STARR-seq lymphoblastoid silent region 8245 [Gene]
  • LOC130060387:ATAC-STARR-seq lymphoblastoid silent region 8249 [Gene]
  • LOC130060388:ATAC-STARR-seq lymphoblastoid silent region 8250 [Gene]
  • LOC130060395:ATAC-STARR-seq lymphoblastoid silent region 8254 [Gene]
  • LOC130060396:ATAC-STARR-seq lymphoblastoid silent region 8255 [Gene]
  • LOC130060397:ATAC-STARR-seq lymphoblastoid silent region 8256 [Gene]
  • LOC130060399:ATAC-STARR-seq lymphoblastoid silent region 8257 [Gene]
  • LOC130060402:ATAC-STARR-seq lymphoblastoid silent region 8261 [Gene]
  • LOC130060407:ATAC-STARR-seq lymphoblastoid silent region 8262 [Gene]
  • LOC130060412:ATAC-STARR-seq lymphoblastoid silent region 8264 [Gene]
  • LOC130060413:ATAC-STARR-seq lymphoblastoid silent region 8265 [Gene]
  • LOC130060416:ATAC-STARR-seq lymphoblastoid silent region 8266 [Gene]
  • LOC130060421:ATAC-STARR-seq lymphoblastoid silent region 8269 [Gene]
  • LOC130060423:ATAC-STARR-seq lymphoblastoid silent region 8270 [Gene]
  • LOC130060424:ATAC-STARR-seq lymphoblastoid silent region 8271 [Gene]
  • LOC130060428:ATAC-STARR-seq lymphoblastoid silent region 8275 [Gene]
  • ATPAF2:ATP synthase mitochondrial F1 complex assembly factor 2 [Gene - OMIM - HGNC]
  • LOC126862515:BRD4-independent group 4 enhancer GRCh37_chr17:17349107-17350306 [Gene]
  • LOC126862516:BRD4-independent group 4 enhancer GRCh37_chr17:17779053-17780252 [Gene]
  • COPS3:COP9 signalosome subunit 3 [Gene - OMIM - HGNC]
  • TOP3A:DNA topoisomerase III alpha [Gene - OMIM - HGNC]
  • FLII:FLII actin remodeling protein [Gene - OMIM - HGNC]
  • GID4:GID complex subunit 4 homolog [Gene - OMIM - HGNC]
  • LLGL1:LLGL scribble cell polarity complex component 1 [Gene - OMIM - HGNC]
  • LOC129390842:MPRA-validated peak2752 silencer [Gene]
  • LOC129390843:MPRA-validated peak2757 silencer [Gene]
  • LOC111556156:NFE2L2 motif-containing MPRA enhancer 126 [Gene]
  • LOC132090457:Neanderthal introgressed variant-containing enhancer experimental_47083 [Gene]
  • LOC132090458:Neanderthal introgressed variant-containing enhancer experimental_47087 [Gene]
  • LOC113939958:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:16946458-16947657 [Gene]
  • RAI1-AS1:RAI1 antisense RNA 1 [Gene - HGNC]
  • SMCR8:SMCR8-C9orf72 complex subunit [Gene - OMIM - HGNC]
  • LOC112529899:Sharpr-MPRA regulatory region 10129 [Gene]
  • LOC121852924:Sharpr-MPRA regulatory region 10333 [Gene]
  • LOC121587578:Sharpr-MPRA regulatory region 10806 [Gene]
  • LOC125177430:Sharpr-MPRA regulatory region 11476 [Gene]
  • LOC125177435:Sharpr-MPRA regulatory region 12190 [Gene]
  • LOC125177433:Sharpr-MPRA regulatory region 12990 [Gene]
  • LOC125177429:Sharpr-MPRA regulatory region 14253 [Gene]
  • LOC125177432:Sharpr-MPRA regulatory region 1571 [Gene]
  • LOC125177431:Sharpr-MPRA regulatory region 3199 [Gene]
  • LOC112529898:Sharpr-MPRA regulatory region 4579 [Gene]
  • LOC125177434:Sharpr-MPRA regulatory region 6800 [Gene]
  • LOC121587579:Sharpr-MPRA regulatory region 7387 [Gene]
  • SMCR2:Smith-Magenis syndrome chromosome region, candidate 2 [Gene - HGNC]
  • SMCR5:Smith-Magenis syndrome chromosome region, candidate 5 [Gene - HGNC]
  • TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]
  • LOC110121461:VISTA enhancer hs1917 [Gene]
  • ALKBH5:alkB homolog 5, RNA demethylase [Gene - OMIM - HGNC]
  • CCDC144A:coiled-coil domain containing 144A [Gene - OMIM - HGNC]
  • DRG2:developmentally regulated GTP binding protein 2 [Gene - OMIM - HGNC]
  • LOC108745275:distal SMS-REP block A recombination region [Gene]
  • LOC106020709:distal SMS-REP block C recombination region [Gene]
  • DRC3:dynein regulatory complex subunit 3 [Gene - OMIM - HGNC]
  • FAM106C:family with sequence similarity 106 member C [Gene - HGNC]
  • FLCN:folliculin [Gene - OMIM - HGNC]
  • LINC02090:long intergenic non-protein coding RNA 2090 [Gene - HGNC]
  • MED9:mediator complex subunit 9 [Gene - OMIM - HGNC]
  • MIR33B:microRNA 33b [Gene - OMIM - HGNC]
  • MIR6777:microRNA 6777 [Gene - HGNC]
  • MIEF2:mitochondrial elongation factor 2 [Gene - OMIM - HGNC]
  • MYO15A:myosin XVA [Gene - OMIM - HGNC]
  • MPRIP:myosin phosphatase Rho interacting protein [Gene - OMIM - HGNC]
  • PEMT:phosphatidylethanolamine N-methyltransferase [Gene - OMIM - HGNC]
  • PLD6:phospholipase D family member 6 [Gene - OMIM - HGNC]
  • RASD1:ras related dexamethasone induced 1 [Gene - OMIM - HGNC]
  • RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]
  • SHMT1:serine hydroxymethyltransferase 1 [Gene - OMIM - HGNC]
  • SREBF1:sterol regulatory element binding transcription factor 1 [Gene - OMIM - HGNC]
  • TOM1L2:target of myb1 like 2 membrane trafficking protein [Gene - OMIM - HGNC]
  • LOC105371566:uncharacterized LOC105371566 [Gene]
  • LOC284191:uncharacterized LOC284191 [Gene]
Variant type:
copy number loss
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1
HGVS:
  • NC_000017.11:g.(?_16734588)_(18333372_?)del
  • NC_000017.10:g.(?_16637902)_(18236686_?)del
  • NC_000017.9:g.(?_16578627)_(18177411_?)del
Links:
dbVar: nssv582688; dbVar: nsv533035
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
SCV000175760ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot 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, SCV000175760.4

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

Last Updated: May 7, 2024