U.S. flag

An official website of the United States government

GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3 AND See cases

Germline classification:
Pathogenic (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:
RCV000053559.4

Allele description [Variation Report for GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3]

GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3

Genes:
  • PAPSS2:3'-phosphoadenosine 5'-phosphosulfate synthase 2 [Gene - OMIM - HGNC]
  • ACTA2-AS1:ACTA2 antisense RNA 1 [Gene - HGNC]
  • ADIRF-AS1:ADIRF antisense RNA 1 [Gene - HGNC]
  • LOC130004223:ATAC-STARR-seq lymphoblastoid active region 3682 [Gene]
  • LOC130004230:ATAC-STARR-seq lymphoblastoid active region 3683 [Gene]
  • LOC130004231:ATAC-STARR-seq lymphoblastoid active region 3684 [Gene]
  • LOC130004232:ATAC-STARR-seq lymphoblastoid active region 3685 [Gene]
  • LOC130004233:ATAC-STARR-seq lymphoblastoid active region 3688 [Gene]
  • LOC130004234:ATAC-STARR-seq lymphoblastoid active region 3689 [Gene]
  • LOC130004235:ATAC-STARR-seq lymphoblastoid active region 3690 [Gene]
  • LOC130004236:ATAC-STARR-seq lymphoblastoid active region 3691 [Gene]
  • LOC130004240:ATAC-STARR-seq lymphoblastoid active region 3692 [Gene]
  • LOC130004241:ATAC-STARR-seq lymphoblastoid active region 3693 [Gene]
  • LOC130004242:ATAC-STARR-seq lymphoblastoid active region 3694 [Gene]
  • LOC130004243:ATAC-STARR-seq lymphoblastoid active region 3695 [Gene]
  • LOC130004244:ATAC-STARR-seq lymphoblastoid active region 3696 [Gene]
  • LOC130004247:ATAC-STARR-seq lymphoblastoid active region 3697 [Gene]
  • LOC130004248:ATAC-STARR-seq lymphoblastoid active region 3698 [Gene]
  • LOC130004249:ATAC-STARR-seq lymphoblastoid active region 3699 [Gene]
  • LOC130004250:ATAC-STARR-seq lymphoblastoid active region 3700 [Gene]
  • LOC130004251:ATAC-STARR-seq lymphoblastoid active region 3702 [Gene]
  • LOC130004252:ATAC-STARR-seq lymphoblastoid active region 3703 [Gene]
  • LOC130004253:ATAC-STARR-seq lymphoblastoid active region 3704 [Gene]
  • LOC130004256:ATAC-STARR-seq lymphoblastoid active region 3705 [Gene]
  • LOC130004257:ATAC-STARR-seq lymphoblastoid active region 3706 [Gene]
  • LOC130004260:ATAC-STARR-seq lymphoblastoid active region 3707 [Gene]
  • LOC130004261:ATAC-STARR-seq lymphoblastoid active region 3708 [Gene]
  • LOC130004263:ATAC-STARR-seq lymphoblastoid active region 3709 [Gene]
  • LOC130004264:ATAC-STARR-seq lymphoblastoid active region 3710 [Gene]
  • LOC130004265:ATAC-STARR-seq lymphoblastoid active region 3711 [Gene]
  • LOC130004267:ATAC-STARR-seq lymphoblastoid active region 3712 [Gene]
  • LOC130004269:ATAC-STARR-seq lymphoblastoid active region 3713 [Gene]
  • LOC130004270:ATAC-STARR-seq lymphoblastoid active region 3714 [Gene]
  • LOC130004271:ATAC-STARR-seq lymphoblastoid active region 3715 [Gene]
  • LOC130004272:ATAC-STARR-seq lymphoblastoid active region 3716 [Gene]
  • LOC130004277:ATAC-STARR-seq lymphoblastoid active region 3717 [Gene]
  • LOC130004278:ATAC-STARR-seq lymphoblastoid active region 3718 [Gene]
  • LOC130004279:ATAC-STARR-seq lymphoblastoid active region 3719 [Gene]
  • LOC130004280:ATAC-STARR-seq lymphoblastoid active region 3720 [Gene]
  • LOC130004281:ATAC-STARR-seq lymphoblastoid active region 3721 [Gene]
  • LOC130004282:ATAC-STARR-seq lymphoblastoid active region 3722 [Gene]
  • LOC130004283:ATAC-STARR-seq lymphoblastoid active region 3723 [Gene]
  • LOC130004284:ATAC-STARR-seq lymphoblastoid active region 3724 [Gene]
  • LOC130004285:ATAC-STARR-seq lymphoblastoid active region 3725 [Gene]
  • LOC130004286:ATAC-STARR-seq lymphoblastoid active region 3726 [Gene]
  • LOC130004288:ATAC-STARR-seq lymphoblastoid active region 3727 [Gene]
  • LOC130004289:ATAC-STARR-seq lymphoblastoid active region 3728 [Gene]
  • LOC130004290:ATAC-STARR-seq lymphoblastoid active region 3729 [Gene]
  • LOC130004291:ATAC-STARR-seq lymphoblastoid active region 3730 [Gene]
  • LOC130004292:ATAC-STARR-seq lymphoblastoid active region 3731 [Gene]
  • LOC130004294:ATAC-STARR-seq lymphoblastoid active region 3732 [Gene]
  • LOC130004295:ATAC-STARR-seq lymphoblastoid active region 3733 [Gene]
  • LOC130004296:ATAC-STARR-seq lymphoblastoid active region 3734 [Gene]
  • LOC130004224:ATAC-STARR-seq lymphoblastoid silent region 2556 [Gene]
  • LOC130004225:ATAC-STARR-seq lymphoblastoid silent region 2557 [Gene]
  • LOC130004226:ATAC-STARR-seq lymphoblastoid silent region 2558 [Gene]
  • LOC130004227:ATAC-STARR-seq lymphoblastoid silent region 2559 [Gene]
  • LOC130004228:ATAC-STARR-seq lymphoblastoid silent region 2560 [Gene]
  • LOC130004229:ATAC-STARR-seq lymphoblastoid silent region 2563 [Gene]
  • LOC130004237:ATAC-STARR-seq lymphoblastoid silent region 2569 [Gene]
  • LOC130004238:ATAC-STARR-seq lymphoblastoid silent region 2570 [Gene]
  • LOC130004239:ATAC-STARR-seq lymphoblastoid silent region 2571 [Gene]
  • LOC130004245:ATAC-STARR-seq lymphoblastoid silent region 2573 [Gene]
  • LOC130004246:ATAC-STARR-seq lymphoblastoid silent region 2574 [Gene]
  • LOC130004254:ATAC-STARR-seq lymphoblastoid silent region 2576 [Gene]
  • LOC130004255:ATAC-STARR-seq lymphoblastoid silent region 2577 [Gene]
  • LOC130004258:ATAC-STARR-seq lymphoblastoid silent region 2579 [Gene]
  • LOC130004259:ATAC-STARR-seq lymphoblastoid silent region 2581 [Gene]
  • LOC130004262:ATAC-STARR-seq lymphoblastoid silent region 2582 [Gene]
  • LOC130004266:ATAC-STARR-seq lymphoblastoid silent region 2583 [Gene]
  • LOC130004268:ATAC-STARR-seq lymphoblastoid silent region 2584 [Gene]
  • LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
  • LOC130004274:ATAC-STARR-seq lymphoblastoid silent region 2586 [Gene]
  • LOC130004275:ATAC-STARR-seq lymphoblastoid silent region 2587 [Gene]
  • LOC130004276:ATAC-STARR-seq lymphoblastoid silent region 2588 [Gene]
  • LOC130004287:ATAC-STARR-seq lymphoblastoid silent region 2589 [Gene]
  • LOC130004293:ATAC-STARR-seq lymphoblastoid silent region 2590 [Gene]
  • ATAD1:ATPase family AAA domain containing 1 [Gene - OMIM - HGNC]
  • AGAP11:ArfGAP with GTPase domain, ankyrin repeat and PH domain 11 [Gene - HGNC]
  • LOC126860992:BRD4-independent group 4 enhancer GRCh37_chr10:90518932-90520131 [Gene]
  • LOC126860990:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:89311461-89312660 [Gene]
  • LOC116216117:CRISPRi-validated cis-regulatory element chr10.3228 [Gene]
  • FAS-AS1:FAS antisense RNA 1 [Gene - HGNC]
  • FAS:Fas cell surface death receptor [Gene - OMIM - HGNC]
  • GRID1-AS1:GRID1 antisense RNA 1 [Gene - HGNC]
  • LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
  • LOC126860987:MED14-independent group 3 enhancer GRCh37_chr10:86858502-86859701 [Gene]
  • LOC126860991:MED14-independent group 3 enhancer GRCh37_chr10:89602409-89603608 [Gene]
  • LOC126860993:MED14-independent group 3 enhancer GRCh37_chr10:90641731-90642930 [Gene]
  • LOC129390211:MPRA-validated peak1039 silencer [Gene]
  • LOC129390212:MPRA-validated peak1043 silencer [Gene]
  • LOC129390213:MPRA-validated peak1047 silencer [Gene]
  • NUTM2A:NUT family member 2A [Gene - HGNC]
  • NUTM2D:NUT family member 2D [Gene - HGNC]
  • NUTM2A-AS1:NUTM2A antisense RNA 1 [Gene - HGNC]
  • LOC132089869:Neanderthal introgressed variant-containing enhancer experimental_17686 [Gene]
  • LOC132089870:Neanderthal introgressed variant-containing enhancer experimental_17738 [Gene]
  • LOC132089871:Neanderthal introgressed variant-containing enhancer experimental_17744 [Gene]
  • LOC132089872:Neanderthal introgressed variant-containing enhancer experimental_17754 [Gene]
  • LOC132090824:Neanderthal introgressed variant-containing enhancer experimental_17795 [Gene]
  • LOC132089873:Neanderthal introgressed variant-containing enhancer experimental_17841 [Gene]
  • LOC132089874:Neanderthal introgressed variant-containing enhancer experimental_17874 [Gene]
  • LOC132089875:Neanderthal introgressed variant-containing enhancer experimental_17897 [Gene]
  • LOC132089876:Neanderthal introgressed variant-containing enhancer experimental_17910 [Gene]
  • LOC126860988:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:87317701-87318900 [Gene]
  • LOC126860989:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:88730527-88731726 [Gene]
  • STAMBPL1:STAM binding protein like 1 [Gene - OMIM - HGNC]
  • LOC124416861:Sharpr-MPRA regulatory region 10398 [Gene]
  • LOC121815954:Sharpr-MPRA regulatory region 10781 [Gene]
  • LOC124416864:Sharpr-MPRA regulatory region 1114 [Gene]
  • LOC121366069:Sharpr-MPRA regulatory region 13981 [Gene]
  • LOC124416860:Sharpr-MPRA regulatory region 15258 [Gene]
  • LOC124416863:Sharpr-MPRA regulatory region 3344 [Gene]
  • LOC111982877:Sharpr-MPRA regulatory region 4131 [Gene]
  • LOC111982878:Sharpr-MPRA regulatory region 4381 [Gene]
  • LOC121366070:Sharpr-MPRA regulatory region 565 [Gene]
  • LOC124416862:Sharpr-MPRA regulatory region 6517 [Gene]
  • LOC121366071:Sharpr-MPRA regulatory region 7232 [Gene]
  • LOC124416859:Sharpr-MPRA regulatory region 9256 [Gene]
  • LOC110121486:VISTA enhancer hs2143 [Gene]
  • WAPL:WAPL cohesin release factor [Gene - OMIM - HGNC]
  • WAPL-DT:WAPL divergent transcript [Gene - HGNC]
  • ACTA2:actin alpha 2, smooth muscle [Gene - OMIM - HGNC]
  • ADIRF:adipogenesis regulatory factor [Gene - HGNC]
  • ANKRD22:ankyrin repeat domain 22 [Gene - HGNC]
  • BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]
  • CCSER2:coiled-coil serine rich protein 2 [Gene - OMIM - HGNC]
  • FAM245A:family with sequence similarity 245 member A [Gene - HGNC]
  • FAM25A:family with sequence similarity 25 member A [Gene - HGNC]
  • GLUD1:glutamate dehydrogenase 1 [Gene - OMIM - HGNC]
  • GRID1:glutamate ionotropic receptor delta type subunit 1 [Gene - OMIM - HGNC]
  • KLLN:killin, p53 regulated DNA replication inhibitor [Gene - OMIM - HGNC]
  • LIPF:lipase F, gastric type [Gene - OMIM - HGNC]
  • LIPJ:lipase family member J [Gene - OMIM - HGNC]
  • LIPK:lipase family member K [Gene - OMIM - HGNC]
  • LIPM:lipase family member M [Gene - OMIM - HGNC]
  • LIPN:lipase family member N [Gene - OMIM - HGNC]
  • LINC01519:long intergenic non-protein coding RNA 1519 [Gene - HGNC]
  • LINC01520:long intergenic non-protein coding RNA 1520 [Gene - HGNC]
  • LINC02647:long intergenic non-protein coding RNA 2647 [Gene - HGNC]
  • LINC00863:long intergenic non-protein coding RNA 863 [Gene - HGNC]
  • MIR346:microRNA 346 [Gene - OMIM - HGNC]
  • MIR4678:microRNA 4678 [Gene - HGNC]
  • MIR4679-1:microRNA 4679-1 [Gene - HGNC]
  • MIR4679-2:microRNA 4679-2 [Gene - HGNC]
  • MMRN2:multimerin 2 [Gene - OMIM - HGNC]
  • MINPP1:multiple inositol-polyphosphate phosphatase 1 [Gene - OMIM - HGNC]
  • OPN4:opsin 4 [Gene - OMIM - HGNC]
  • PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
  • RNLS:renalase, FAD dependent amine oxidase [Gene - OMIM - HGNC]
  • SHLD2:shieldin complex subunit 2 [Gene - OMIM - HGNC]
  • SNCG:synuclein gamma [Gene - OMIM - HGNC]
  • LOC101929662:uncharacterized LOC101929662 [Gene]
Variant type:
copy number gain
Cytogenetic location:
10q23.1-23.31
Genomic location:
Preferred name:
GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3
HGVS:
  • NC_000010.11:g.(?_84434981)_(89150802_?)dup
  • NC_000010.10:g.(?_86194737)_(90910559_?)dup
  • NC_000010.9:g.(?_86184717)_(90900539_?)dup
Links:
dbVar: nssv578571; dbVar: nsv532230
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000080919GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(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, SCV000080919.4

#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