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GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 21, 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:
RCV000143046.4

Allele description [Variation Report for GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1]

GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1

Genes:
  • NT5M:5',3'-nucleotidase, mitochondrial [Gene - OMIM - HGNC]
  • LOC130060308:ATAC-STARR-seq lymphoblastoid active region 11743 [Gene]
  • LOC130060310:ATAC-STARR-seq lymphoblastoid active region 11746 [Gene]
  • LOC130060313:ATAC-STARR-seq lymphoblastoid active region 11748 [Gene]
  • LOC130060314:ATAC-STARR-seq lymphoblastoid active region 11749 [Gene]
  • LOC130060315:ATAC-STARR-seq lymphoblastoid active region 11750 [Gene]
  • LOC130060316:ATAC-STARR-seq lymphoblastoid active region 11752 [Gene]
  • LOC130060317:ATAC-STARR-seq lymphoblastoid active region 11753 [Gene]
  • LOC130060318:ATAC-STARR-seq lymphoblastoid active region 11754 [Gene]
  • LOC130060322:ATAC-STARR-seq lymphoblastoid active region 11755 [Gene]
  • LOC130060323:ATAC-STARR-seq lymphoblastoid active region 11756 [Gene]
  • LOC130060328:ATAC-STARR-seq lymphoblastoid active region 11757 [Gene]
  • LOC130060329:ATAC-STARR-seq lymphoblastoid active region 11758 [Gene]
  • LOC130060330:ATAC-STARR-seq lymphoblastoid active region 11759 [Gene]
  • LOC130060332:ATAC-STARR-seq lymphoblastoid active region 11760 [Gene]
  • LOC130060333:ATAC-STARR-seq lymphoblastoid active region 11761 [Gene]
  • LOC130060334:ATAC-STARR-seq lymphoblastoid active region 11762 [Gene]
  • LOC130060335:ATAC-STARR-seq lymphoblastoid active region 11763 [Gene]
  • LOC130060339:ATAC-STARR-seq lymphoblastoid active region 11767 [Gene]
  • LOC130060340:ATAC-STARR-seq lymphoblastoid active region 11768 [Gene]
  • LOC130060341:ATAC-STARR-seq lymphoblastoid active region 11769 [Gene]
  • 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]
  • LOC130060307:ATAC-STARR-seq lymphoblastoid silent region 8211 [Gene]
  • LOC130060309:ATAC-STARR-seq lymphoblastoid silent region 8213 [Gene]
  • LOC130060311:ATAC-STARR-seq lymphoblastoid silent region 8214 [Gene]
  • LOC130060312:ATAC-STARR-seq lymphoblastoid silent region 8215 [Gene]
  • LOC130060319:ATAC-STARR-seq lymphoblastoid silent region 8217 [Gene]
  • LOC130060320:ATAC-STARR-seq lymphoblastoid silent region 8218 [Gene]
  • LOC130060321:ATAC-STARR-seq lymphoblastoid silent region 8219 [Gene]
  • LOC130060324:ATAC-STARR-seq lymphoblastoid silent region 8220 [Gene]
  • LOC130060325:ATAC-STARR-seq lymphoblastoid silent region 8221 [Gene]
  • LOC130060326:ATAC-STARR-seq lymphoblastoid silent region 8222 [Gene]
  • LOC130060327:ATAC-STARR-seq lymphoblastoid silent region 8223 [Gene]
  • LOC130060331:ATAC-STARR-seq lymphoblastoid silent region 8224 [Gene]
  • LOC130060336:ATAC-STARR-seq lymphoblastoid silent region 8225 [Gene]
  • LOC130060337:ATAC-STARR-seq lymphoblastoid silent region 8226 [Gene]
  • LOC130060338:ATAC-STARR-seq lymphoblastoid silent region 8227 [Gene]
  • LOC130060342:ATAC-STARR-seq lymphoblastoid silent region 8228 [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]
  • LOC126862514:BRD4-independent group 4 enhancer GRCh37_chr17:16419598-16420797 [Gene]
  • LOC126862515:BRD4-independent group 4 enhancer GRCh37_chr17:17349107-17350306 [Gene]
  • LOC126862513:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:15181646-15182845 [Gene]
  • CDRT3:CMT1A duplicated region transcript 3 [Gene - HGNC]
  • CDRT4:CMT1A duplicated region transcript 4 [Gene - HGNC]
  • CDRT8:CMT1A duplicated region transcript 8 [Gene - HGNC]
  • COPS3:COP9 signalosome subunit 3 [Gene - OMIM - HGNC]
  • LOC116276455:CRISPRi-validated cis-regulatory element chr17.878 [Gene]
  • FBXW10B:F-box and WD repeat domain containing 10B [Gene - OMIM - HGNC]
  • LOC106020711:LCR17pA recombination region [Gene]
  • LOC126862512:MED14-independent group 3 enhancer GRCh37_chr17:15009287-15010486 [Gene]
  • LOC112529896:MED14-independent group 3 enhancer GRCh37_chr17:15393660-15394859 [Gene]
  • LOC129390841:MPRA-validated peak2750 silencer [Gene]
  • 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]
  • LOC121587577:Sharpr-MPRA regulatory region 10193 [Gene]
  • LOC112529897:Sharpr-MPRA regulatory region 12459 [Gene]
  • LOC125177429:Sharpr-MPRA regulatory region 14253 [Gene]
  • LOC112529898:Sharpr-MPRA regulatory region 4579 [Gene]
  • LOC121587576:Sharpr-MPRA regulatory region 5503 [Gene]
  • LOC125177427:Sharpr-MPRA regulatory region 6604 [Gene]
  • LOC125177428:Sharpr-MPRA regulatory regions 7543 and 3494 [Gene]
  • TBC1D26:TBC1 domain family member 26 [Gene - HGNC]
  • TBC1D26-AS1:TBC1D26 antisense RNA 1 [Gene - HGNC]
  • TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]
  • TVP23C-CDRT4:TVP23C-CDRT4 readthrough [Gene - HGNC]
  • ZNF286A-TBC1D26:ZNF286A-TBC1D26 readthrough (NMD candidate) [Gene - HGNC]
  • ADORA2B:adenosine A2b receptor [Gene - OMIM - HGNC]
  • CENPV:centromere protein V [Gene - OMIM - HGNC]
  • CCDC144A:coiled-coil domain containing 144A [Gene - OMIM - HGNC]
  • LOC108745275:distal SMS-REP block A recombination region [Gene]
  • LOC106020709:distal SMS-REP block C recombination region [Gene]
  • FAM106C:family with sequence similarity 106 member C [Gene - HGNC]
  • FLCN:folliculin [Gene - OMIM - HGNC]
  • LRRC75A:leucine rich repeat containing 75A [Gene - HGNC]
  • LINC02087:long intergenic non-protein coding RNA 2087 [Gene - HGNC]
  • LINC02090:long intergenic non-protein coding RNA 2090 [Gene - HGNC]
  • MIR1288:microRNA 1288 [Gene - HGNC]
  • MIR4731:microRNA 4731 [Gene - HGNC]
  • MPRIP:myosin phosphatase Rho interacting protein [Gene - OMIM - HGNC]
  • NCOR1:nuclear receptor corepressor 1 [Gene - OMIM - HGNC]
  • PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
  • PIGL:phosphatidylinositol glycan anchor biosynthesis class L [Gene - OMIM - HGNC]
  • PLD6:phospholipase D family member 6 [Gene - OMIM - HGNC]
  • LOC105943587:proximal CMT1A-REP [Gene]
  • SNHG29:small nucleolar RNA host gene 29 [Gene - HGNC]
  • SNORD163:small nucleolar RNA, C/D box 163 [Gene - HGNC]
  • SNORD49A:small nucleolar RNA, C/D box 49A [Gene - HGNC]
  • SNORD49B:small nucleolar RNA, C/D box 49B [Gene - HGNC]
  • SNORD65:small nucleolar RNA, C/D box 65 [Gene - HGNC]
  • TEKT3:tektin 3 [Gene - OMIM - HGNC]
  • TTC19:tetratricopeptide repeat domain 19 [Gene - OMIM - HGNC]
  • TVP23C:trans-golgi network vesicle protein 23 homolog C [Gene - HGNC]
  • TRPV2:transient receptor potential cation channel subfamily V member 2 [Gene - OMIM - HGNC]
  • TRIM16:tripartite motif containing 16 [Gene - OMIM - HGNC]
  • UBB:ubiquitin B [Gene - OMIM - HGNC]
  • LOC284191:uncharacterized LOC284191 [Gene]
  • ZSWIM7:zinc finger SWIM-type containing 7 [Gene - OMIM - HGNC]
  • ZNF286A:zinc finger protein 286A [Gene - HGNC]
  • ZNF287:zinc finger protein 287 [Gene - HGNC]
  • ZNF624:zinc finger protein 624 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17p12-11.2
Genomic location:
Preferred name:
GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1
HGVS:
  • NC_000017.11:g.(?_15066799)_(17472457_?)del
  • NC_000017.10:g.(?_14970116)_(17375771_?)del
  • NC_000017.9:g.(?_14910841)_(17316496_?)del
Links:
dbVar: nssv1604437; dbVar: nsv917095
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
SCV000180186ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 21, 2012) 		not providedclinical 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 4, SCV000180186.3

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

Last Updated: Oct 14, 2023