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GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 24, 2014
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:
RCV000141724.4

Allele description [Variation Report for GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1]

GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1

Genes:
  • ADIRF-AS1:ADIRF antisense RNA 1 [Gene - HGNC]
  • LOC130004183:ATAC-STARR-seq lymphoblastoid active region 3648 [Gene]
  • LOC130004185:ATAC-STARR-seq lymphoblastoid active region 3649 [Gene]
  • LOC130004186:ATAC-STARR-seq lymphoblastoid active region 3650 [Gene]
  • LOC130004187:ATAC-STARR-seq lymphoblastoid active region 3651 [Gene]
  • LOC130004189:ATAC-STARR-seq lymphoblastoid active region 3652 [Gene]
  • LOC130004190:ATAC-STARR-seq lymphoblastoid active region 3653 [Gene]
  • LOC130004192:ATAC-STARR-seq lymphoblastoid active region 3654 [Gene]
  • LOC130004193:ATAC-STARR-seq lymphoblastoid active region 3655 [Gene]
  • LOC130004194:ATAC-STARR-seq lymphoblastoid active region 3657 [Gene]
  • LOC130004195:ATAC-STARR-seq lymphoblastoid active region 3658 [Gene]
  • LOC130004196:ATAC-STARR-seq lymphoblastoid active region 3659 [Gene]
  • LOC130004197:ATAC-STARR-seq lymphoblastoid active region 3660 [Gene]
  • LOC130004198:ATAC-STARR-seq lymphoblastoid active region 3661 [Gene]
  • LOC130004199:ATAC-STARR-seq lymphoblastoid active region 3662 [Gene]
  • LOC130004200:ATAC-STARR-seq lymphoblastoid active region 3663 [Gene]
  • LOC130004202:ATAC-STARR-seq lymphoblastoid active region 3664 [Gene]
  • LOC130004203:ATAC-STARR-seq lymphoblastoid active region 3665 [Gene]
  • LOC130004205:ATAC-STARR-seq lymphoblastoid active region 3666 [Gene]
  • LOC130004206:ATAC-STARR-seq lymphoblastoid active region 3667 [Gene]
  • LOC130004207:ATAC-STARR-seq lymphoblastoid active region 3668 [Gene]
  • LOC130004208:ATAC-STARR-seq lymphoblastoid active region 3669 [Gene]
  • LOC130004209:ATAC-STARR-seq lymphoblastoid active region 3670 [Gene]
  • LOC130004210:ATAC-STARR-seq lymphoblastoid active region 3672 [Gene]
  • LOC130004211:ATAC-STARR-seq lymphoblastoid active region 3673 [Gene]
  • LOC130004212:ATAC-STARR-seq lymphoblastoid active region 3674 [Gene]
  • LOC130004213:ATAC-STARR-seq lymphoblastoid active region 3676 [Gene]
  • LOC130004214:ATAC-STARR-seq lymphoblastoid active region 3677 [Gene]
  • LOC130004218:ATAC-STARR-seq lymphoblastoid active region 3678 [Gene]
  • LOC130004220:ATAC-STARR-seq lymphoblastoid active region 3679 [Gene]
  • LOC130004221:ATAC-STARR-seq lymphoblastoid active region 3680 [Gene]
  • LOC130004222:ATAC-STARR-seq lymphoblastoid active region 3681 [Gene]
  • 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]
  • LOC130004184:ATAC-STARR-seq lymphoblastoid silent region 2543 [Gene]
  • LOC130004188:ATAC-STARR-seq lymphoblastoid silent region 2544 [Gene]
  • LOC130004191:ATAC-STARR-seq lymphoblastoid silent region 2545 [Gene]
  • LOC130004201:ATAC-STARR-seq lymphoblastoid silent region 2547 [Gene]
  • LOC130004204:ATAC-STARR-seq lymphoblastoid silent region 2548 [Gene]
  • LOC130004215:ATAC-STARR-seq lymphoblastoid silent region 2550 [Gene]
  • LOC130004216:ATAC-STARR-seq lymphoblastoid silent region 2551 [Gene]
  • LOC130004217:ATAC-STARR-seq lymphoblastoid silent region 2553 [Gene]
  • LOC130004219:ATAC-STARR-seq lymphoblastoid silent region 2554 [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]
  • AGAP11:ArfGAP with GTPase domain, ankyrin repeat and PH domain 11 [Gene - HGNC]
  • LOC126860984:BRD4-independent group 4 enhancer GRCh37_chr10:84715398-84716597 [Gene]
  • LOC126860977:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:81917938-81919137 [Gene]
  • LOC126860980:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:82032694-82033893 [Gene]
  • LOC126860983:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:84047967-84049166 [Gene]
  • DYDC1:DPY30 domain containing 1 [Gene - OMIM - HGNC]
  • DYDC2:DPY30 domain containing 2 [Gene - HGNC]
  • GPR15LG:G protein-coupled receptor 15 ligand [Gene - OMIM - HGNC]
  • GRID1-AS1:GRID1 antisense RNA 1 [Gene - HGNC]
  • LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
  • LOC126860979:MED14-independent group 3 enhancer GRCh37_chr10:81966703-81967902 [Gene]
  • LOC126860981:MED14-independent group 3 enhancer GRCh37_chr10:82937375-82938574 [Gene]
  • LOC126860982:MED14-independent group 3 enhancer GRCh37_chr10:83203620-83204819 [Gene]
  • LOC126860985:MED14-independent group 3 enhancer GRCh37_chr10:85743139-85744338 [Gene]
  • LOC126860987:MED14-independent group 3 enhancer GRCh37_chr10:86858502-86859701 [Gene]
  • LOC129390207:MPRA-validated peak1026 silencer [Gene]
  • LOC129390208:MPRA-validated peak1027 silencer [Gene]
  • LOC129390209:MPRA-validated peak1031 silencer [Gene]
  • LOC129390210:MPRA-validated peak1034 silencer [Gene]
  • LOC129390211:MPRA-validated peak1039 silencer [Gene]
  • LOC129390212:MPRA-validated peak1043 silencer [Gene]
  • NRG3-AS1:NRG3 antisense RNA 1 [Gene - HGNC]
  • NUTM2B:NUT family member 2B [Gene - HGNC]
  • NUTM2E:NUT family member 2E [Gene - HGNC]
  • NUTM2B-AS1:NUTM2B antisense RNA 1 [Gene - OMIM - HGNC]
  • LOC132089867:Neanderthal introgressed variant-containing enhancer experimental_17591 [Gene]
  • LOC132089868:Neanderthal introgressed variant-containing enhancer experimental_17641 [Gene]
  • 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]
  • LOC126860978:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:81955517-81956716 [Gene]
  • LOC126860986:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:86028972-86030171 [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]
  • SH2D4B:SH2 domain containing 4B [Gene - HGNC]
  • LOC124416861:Sharpr-MPRA regulatory region 10398 [Gene]
  • LOC124416858:Sharpr-MPRA regulatory region 10623 [Gene]
  • LOC124416855:Sharpr-MPRA regulatory region 12974 [Gene]
  • LOC121366068:Sharpr-MPRA regulatory region 13339 [Gene]
  • LOC111982876:Sharpr-MPRA regulatory region 13640 [Gene]
  • LOC121366069:Sharpr-MPRA regulatory region 13981 [Gene]
  • LOC121366067:Sharpr-MPRA regulatory region 14045 [Gene]
  • LOC124416860:Sharpr-MPRA regulatory region 15258 [Gene]
  • LOC121815953:Sharpr-MPRA regulatory region 2609 [Gene]
  • LOC124416854:Sharpr-MPRA regulatory region 3184 [Gene]
  • LOC111982877:Sharpr-MPRA regulatory region 4131 [Gene]
  • LOC111982878:Sharpr-MPRA regulatory region 4381 [Gene]
  • LOC124416857:Sharpr-MPRA regulatory region 4556 [Gene]
  • LOC121366070:Sharpr-MPRA regulatory region 565 [Gene]
  • LOC124416862:Sharpr-MPRA regulatory region 6517 [Gene]
  • LOC124416856:Sharpr-MPRA regulatory region 907 [Gene]
  • LOC124416859:Sharpr-MPRA regulatory region 9256 [Gene]
  • TMEM254-AS1:TMEM254 antisense RNA 1 [Gene - HGNC]
  • TSPAN14-AS1:TSPAN14 antisense RNA 1 [Gene - HGNC]
  • LOC110121486:VISTA enhancer hs2143 [Gene]
  • WAPL:WAPL cohesin release factor [Gene - OMIM - HGNC]
  • WAPL-DT:WAPL divergent transcript [Gene - HGNC]
  • ADIRF:adipogenesis regulatory factor [Gene - HGNC]
  • ANXA11:annexin A11 [Gene - OMIM - HGNC]
  • BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]
  • CDHR1:cadherin related family member 1 [Gene - OMIM - HGNC]
  • CCSER2:coiled-coil serine rich protein 2 [Gene - OMIM - HGNC]
  • CERNA2:competing endogenous lncRNA 2 for microRNA let-7b [Gene - OMIM - 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]
  • GHITM:growth hormone inducible transmembrane protein [Gene - OMIM - HGNC]
  • LRIT1:leucine rich repeat, Ig-like and transmembrane domains 1 [Gene - OMIM - HGNC]
  • LRIT2:leucine rich repeat, Ig-like and transmembrane domains 2 [Gene - 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]
  • LINC02650:long intergenic non-protein coding RNA 2650 [Gene - HGNC]
  • LINC02655:long intergenic non-protein coding RNA 2655 [Gene - HGNC]
  • LINC00857:long intergenic non-protein coding RNA 857 [Gene - HGNC]
  • LINC00858:long intergenic non-protein coding RNA 858 [Gene - HGNC]
  • MAT1A:methionine adenosyltransferase 1A [Gene - OMIM - HGNC]
  • MIR346:microRNA 346 [Gene - OMIM - HGNC]
  • MMRN2:multimerin 2 [Gene - OMIM - HGNC]
  • NRG3:neuregulin 3 [Gene - OMIM - HGNC]
  • OPN4:opsin 4 [Gene - OMIM - HGNC]
  • PRXL2A:peroxiredoxin like 2A [Gene - OMIM - HGNC]
  • PLAC9:placenta associated 9 [Gene - OMIM - HGNC]
  • RGR:retinal G protein coupled receptor [Gene - OMIM - HGNC]
  • SHLD2:shieldin complex subunit 2 [Gene - OMIM - HGNC]
  • SFTPD:surfactant protein D [Gene - OMIM - HGNC]
  • SNCG:synuclein gamma [Gene - OMIM - HGNC]
  • TSPAN14:tetraspanin 14 [Gene - HGNC]
  • TMEM254:transmembrane protein 254 [Gene - HGNC]
  • LOC100130698:uncharacterized LOC100130698 [Gene]
  • LOC101929662:uncharacterized LOC101929662 [Gene]
  • LOC105378396:uncharacterized LOC105378396 [Gene]
  • LOC642361:uncharacterized LOC642361 [Gene]
Variant type:
copy number loss
Cytogenetic location:
10q22.3-23.2
Genomic location:
Preferred name:
GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1
HGVS:
  • NC_000010.11:g.(?_79689360)_(87223773_?)del
  • NC_000010.10:g.(?_81449116)_(88983530_?)del
  • NC_000010.9:g.(?_81119122)_(88973510_?)del
Links:
dbVar: nssv3396827; dbVar: nsv995271
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
SCV000182693ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Mar 24, 2014) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humanmaternalyes1not 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, SCV000182693.4

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

Last Updated: Oct 14, 2023