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GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2009
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:
RCV000135414.5

Allele description [Variation Report for GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3]

GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3

Genes:
  • LOC130003643:ATAC-STARR-seq lymphoblastoid active region 3244 [Gene]
  • LOC130003648:ATAC-STARR-seq lymphoblastoid active region 3245 [Gene]
  • LOC130003651:ATAC-STARR-seq lymphoblastoid active region 3246 [Gene]
  • LOC130003652:ATAC-STARR-seq lymphoblastoid active region 3247 [Gene]
  • LOC130003655:ATAC-STARR-seq lymphoblastoid active region 3248 [Gene]
  • LOC130003657:ATAC-STARR-seq lymphoblastoid active region 3249 [Gene]
  • LOC130003660:ATAC-STARR-seq lymphoblastoid active region 3250 [Gene]
  • LOC130003661:ATAC-STARR-seq lymphoblastoid active region 3253 [Gene]
  • LOC130003662:ATAC-STARR-seq lymphoblastoid active region 3254 [Gene]
  • LOC130003663:ATAC-STARR-seq lymphoblastoid active region 3255 [Gene]
  • LOC130003666:ATAC-STARR-seq lymphoblastoid active region 3256 [Gene]
  • LOC130003667:ATAC-STARR-seq lymphoblastoid active region 3257 [Gene]
  • LOC130003675:ATAC-STARR-seq lymphoblastoid active region 3259 [Gene]
  • LOC130003677:ATAC-STARR-seq lymphoblastoid active region 3260 [Gene]
  • LOC130003678:ATAC-STARR-seq lymphoblastoid active region 3261 [Gene]
  • LOC130003679:ATAC-STARR-seq lymphoblastoid active region 3262 [Gene]
  • LOC130003680:ATAC-STARR-seq lymphoblastoid active region 3263 [Gene]
  • LOC130003686:ATAC-STARR-seq lymphoblastoid active region 3264 [Gene]
  • LOC130003687:ATAC-STARR-seq lymphoblastoid active region 3265 [Gene]
  • LOC130003688:ATAC-STARR-seq lymphoblastoid active region 3266 [Gene]
  • LOC130003689:ATAC-STARR-seq lymphoblastoid active region 3267 [Gene]
  • LOC130003690:ATAC-STARR-seq lymphoblastoid active region 3268 [Gene]
  • LOC130003691:ATAC-STARR-seq lymphoblastoid active region 3269 [Gene]
  • LOC130003693:ATAC-STARR-seq lymphoblastoid active region 3270 [Gene]
  • LOC130003694:ATAC-STARR-seq lymphoblastoid active region 3271 [Gene]
  • LOC130003696:ATAC-STARR-seq lymphoblastoid active region 3272 [Gene]
  • LOC130003697:ATAC-STARR-seq lymphoblastoid active region 3273 [Gene]
  • LOC130003698:ATAC-STARR-seq lymphoblastoid active region 3274 [Gene]
  • LOC130003644:ATAC-STARR-seq lymphoblastoid silent region 2281 [Gene]
  • LOC130003645:ATAC-STARR-seq lymphoblastoid silent region 2282 [Gene]
  • LOC130003646:ATAC-STARR-seq lymphoblastoid silent region 2283 [Gene]
  • LOC130003647:ATAC-STARR-seq lymphoblastoid silent region 2284 [Gene]
  • LOC130003649:ATAC-STARR-seq lymphoblastoid silent region 2285 [Gene]
  • LOC130003650:ATAC-STARR-seq lymphoblastoid silent region 2286 [Gene]
  • LOC130003653:ATAC-STARR-seq lymphoblastoid silent region 2287 [Gene]
  • LOC130003654:ATAC-STARR-seq lymphoblastoid silent region 2288 [Gene]
  • LOC130003656:ATAC-STARR-seq lymphoblastoid silent region 2289 [Gene]
  • LOC130003658:ATAC-STARR-seq lymphoblastoid silent region 2290 [Gene]
  • LOC130003659:ATAC-STARR-seq lymphoblastoid silent region 2291 [Gene]
  • LOC130003664:ATAC-STARR-seq lymphoblastoid silent region 2292 [Gene]
  • LOC130003665:ATAC-STARR-seq lymphoblastoid silent region 2293 [Gene]
  • LOC130003668:ATAC-STARR-seq lymphoblastoid silent region 2294 [Gene]
  • LOC130003669:ATAC-STARR-seq lymphoblastoid silent region 2295 [Gene]
  • LOC130003670:ATAC-STARR-seq lymphoblastoid silent region 2296 [Gene]
  • LOC130003671:ATAC-STARR-seq lymphoblastoid silent region 2297 [Gene]
  • LOC130003672:ATAC-STARR-seq lymphoblastoid silent region 2298 [Gene]
  • LOC130003673:ATAC-STARR-seq lymphoblastoid silent region 2299 [Gene]
  • LOC130003674:ATAC-STARR-seq lymphoblastoid silent region 2300 [Gene]
  • LOC130003676:ATAC-STARR-seq lymphoblastoid silent region 2301 [Gene]
  • LOC130003681:ATAC-STARR-seq lymphoblastoid silent region 2302 [Gene]
  • LOC130003682:ATAC-STARR-seq lymphoblastoid silent region 2304 [Gene]
  • LOC130003683:ATAC-STARR-seq lymphoblastoid silent region 2305 [Gene]
  • LOC130003684:ATAC-STARR-seq lymphoblastoid silent region 2306 [Gene]
  • LOC130003685:ATAC-STARR-seq lymphoblastoid silent region 2307 [Gene]
  • LOC130003692:ATAC-STARR-seq lymphoblastoid silent region 2308 [Gene]
  • LOC130003695:ATAC-STARR-seq lymphoblastoid silent region 2310 [Gene]
  • LOC126860908:BRD4-independent group 4 enhancer GRCh37_chr10:32337050-32338249 [Gene]
  • LOC126860912:BRD4-independent group 4 enhancer GRCh37_chr10:33993045-33994244 [Gene]
  • LOC126860913:BRD4-independent group 4 enhancer GRCh37_chr10:34166034-34167233 [Gene]
  • LOC126860917:BRD4-independent group 4 enhancer GRCh37_chr10:36084084-36085283 [Gene]
  • CCNY-AS1:CCNY antisense RNA 1 [Gene - HGNC]
  • LOC126860907:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:32306942-32308141 [Gene]
  • LOC126860911:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:33979034-33980233 [Gene]
  • LOC126860914:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:34715861-34717060 [Gene]
  • LOC126860916:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:35819404-35820603 [Gene]
  • EPC1-AS1:EPC1 antisense RNA 1 [Gene - HGNC]
  • IATPR:ITGB1 adjacent tumor promoting lncRNA [Gene - HGNC]
  • ITGB1-DT:ITGB1 divergent transcript [Gene - HGNC]
  • LOC129390163:MPRA-validated peak925 silencer [Gene]
  • LOC129390164:MPRA-validated peak927 silencer [Gene]
  • LOC129390165:MPRA-validated peak929 silencer [Gene]
  • MTRNR2L7:MT-RNR2 like 7 [Gene - HGNC]
  • LOC132090806:Neanderthal introgressed variant-containing enhancer experimental_12178 [Gene]
  • LOC126860909:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:33422695-33423894 [Gene]
  • LOC126860910:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:33552654-33553853 [Gene]
  • LOC126860915:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:35588522-35589721 [Gene]
  • LOC126860918:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:36782803-36784002 [Gene]
  • PARD3-DT:PARD3 divergent transcript [Gene - HGNC]
  • LOC124403938:Sharpr-MPRA regulatory region 1021 [Gene]
  • LOC111946232:Sharpr-MPRA regulatory region 12265 [Gene]
  • LOC124403932:Sharpr-MPRA regulatory region 14665 [Gene]
  • LOC124403936:Sharpr-MPRA regulatory region 15357 [Gene]
  • LOC124403933:Sharpr-MPRA regulatory region 15712 [Gene]
  • LOC124403935:Sharpr-MPRA regulatory region 2386 [Gene]
  • LOC124403937:Sharpr-MPRA regulatory region 397 [Gene]
  • LOC124403940:Sharpr-MPRA regulatory region 6098 [Gene]
  • LOC124403939:Sharpr-MPRA regulatory region 675 [Gene]
  • LOC124403934:Sharpr-MPRA regulatory region 8853 [Gene]
  • LOC111818964:Sharpr-MPRA regulatory regions 2209 and 5551 [Gene]
  • LOC110121348:VISTA enhancer hs1334 [Gene]
  • LOC110121399:VISTA enhancer hs1567 [Gene]
  • LOC110121405:VISTA enhancer hs1588 [Gene]
  • LOC110121406:VISTA enhancer hs1589 [Gene]
  • ZNF248-AS1:ZNF248 antisense RNA 1 [Gene - HGNC]
  • ANKRD30A:ankyrin repeat domain 30A [Gene - OMIM - HGNC]
  • CREM:cAMP responsive element modulator [Gene - OMIM - HGNC]
  • CCDC7:coiled-coil domain containing 7 [Gene - OMIM - HGNC]
  • CUL2:cullin 2 [Gene - OMIM - HGNC]
  • CCNY:cyclin Y [Gene - OMIM - HGNC]
  • EPC1:enhancer of polycomb homolog 1 [Gene - OMIM - HGNC]
  • FZD8:frizzled class receptor 8 [Gene - OMIM - HGNC]
  • GJD4:gap junction protein delta 4 [Gene - OMIM - HGNC]
  • ITGB1:integrin subunit beta 1 [Gene - OMIM - HGNC]
  • KIF5B:kinesin family member 5B [Gene - OMIM - HGNC]
  • LINC02628:long intergenic non-protein coding RNA 2628 [Gene - HGNC]
  • LINC02629:long intergenic non-protein coding RNA 2629 [Gene - HGNC]
  • LINC02630:long intergenic non-protein coding RNA 2630 [Gene - HGNC]
  • LINC02634:long intergenic non-protein coding RNA 2634 [Gene - HGNC]
  • LINC00838:long intergenic non-protein coding RNA 838 [Gene - HGNC]
  • LINC00993:long intergenic non-protein coding RNA 993 [Gene - HGNC]
  • MIR3611:microRNA 3611 [Gene - HGNC]
  • MIR4683:microRNA 4683 [Gene - HGNC]
  • NRP1:neuropilin 1 [Gene - OMIM - HGNC]
  • PARD3:par-3 family cell polarity regulator [Gene - OMIM - HGNC]
  • PCAT5:prostate cancer associated transcript 5 [Gene - HGNC]
  • SNORA86:small nucleolar RNA, H/ACA box 86 [Gene - HGNC]
  • LOC101929431:uncharacterized LOC101929431 [Gene]
  • ZNF248:zinc finger protein 248 [Gene - HGNC]
  • ZNF25:zinc finger protein 25 [Gene - OMIM - HGNC]
  • ZNF33A:zinc finger protein 33A [Gene - OMIM - HGNC]
  • ZNF37A:zinc finger protein 37A [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10p11.22-11.1
Genomic location:
Preferred name:
GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3
HGVS:
  • NC_000010.11:g.(?_31999920)_(38119681_?)dup
  • NC_000010.10:g.(?_32288848)_(38408609_?)dup
  • NC_000010.9:g.(?_32328854)_(38448615_?)dup
Links:
dbVar: nssv582333; dbVar: nsv529071
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
SCV000175100ISCA site 17

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 30, 2009) 		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 17, SCV000175100.3

#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