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GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 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:
RCV000135303.4

Allele description [Variation Report for GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1]

GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1

Genes:
  • LOC130002119:ATAC-STARR-seq lymphoblastoid active region 28635 [Gene]
  • LOC130002120:ATAC-STARR-seq lymphoblastoid active region 28636 [Gene]
  • LOC130002127:ATAC-STARR-seq lymphoblastoid active region 28637 [Gene]
  • LOC130002134:ATAC-STARR-seq lymphoblastoid active region 28641 [Gene]
  • LOC130002136:ATAC-STARR-seq lymphoblastoid active region 28642 [Gene]
  • LOC130002137:ATAC-STARR-seq lymphoblastoid active region 28643 [Gene]
  • LOC130002138:ATAC-STARR-seq lymphoblastoid active region 28644 [Gene]
  • LOC130002139:ATAC-STARR-seq lymphoblastoid active region 28645 [Gene]
  • LOC130002141:ATAC-STARR-seq lymphoblastoid active region 28648 [Gene]
  • LOC130002142:ATAC-STARR-seq lymphoblastoid active region 28649 [Gene]
  • LOC130002143:ATAC-STARR-seq lymphoblastoid active region 28650 [Gene]
  • LOC130002145:ATAC-STARR-seq lymphoblastoid active region 28651 [Gene]
  • LOC130002148:ATAC-STARR-seq lymphoblastoid active region 28652 [Gene]
  • LOC130002149:ATAC-STARR-seq lymphoblastoid active region 28653 [Gene]
  • LOC130002152:ATAC-STARR-seq lymphoblastoid active region 28654 [Gene]
  • LOC130002164:ATAC-STARR-seq lymphoblastoid active region 28655 [Gene]
  • LOC130002169:ATAC-STARR-seq lymphoblastoid active region 28656 [Gene]
  • LOC130002171:ATAC-STARR-seq lymphoblastoid active region 28658 [Gene]
  • LOC130002172:ATAC-STARR-seq lymphoblastoid active region 28659 [Gene]
  • LOC130002173:ATAC-STARR-seq lymphoblastoid active region 28660 [Gene]
  • LOC130002174:ATAC-STARR-seq lymphoblastoid active region 28661 [Gene]
  • LOC130002175:ATAC-STARR-seq lymphoblastoid active region 28663 [Gene]
  • LOC130002177:ATAC-STARR-seq lymphoblastoid active region 28664 [Gene]
  • LOC130002178:ATAC-STARR-seq lymphoblastoid active region 28665 [Gene]
  • LOC130002179:ATAC-STARR-seq lymphoblastoid active region 28666 [Gene]
  • LOC130002180:ATAC-STARR-seq lymphoblastoid active region 28667 [Gene]
  • LOC130002181:ATAC-STARR-seq lymphoblastoid active region 28668 [Gene]
  • LOC130002182:ATAC-STARR-seq lymphoblastoid active region 28669 [Gene]
  • LOC130002183:ATAC-STARR-seq lymphoblastoid active region 28670 [Gene]
  • LOC130002184:ATAC-STARR-seq lymphoblastoid active region 28671 [Gene]
  • LOC130002185:ATAC-STARR-seq lymphoblastoid active region 28674 [Gene]
  • LOC130002186:ATAC-STARR-seq lymphoblastoid active region 28675 [Gene]
  • LOC130002187:ATAC-STARR-seq lymphoblastoid active region 28676 [Gene]
  • LOC130002189:ATAC-STARR-seq lymphoblastoid active region 28678 [Gene]
  • LOC130002191:ATAC-STARR-seq lymphoblastoid active region 28679 [Gene]
  • LOC130002196:ATAC-STARR-seq lymphoblastoid active region 28680 [Gene]
  • LOC130002197:ATAC-STARR-seq lymphoblastoid active region 28681 [Gene]
  • LOC130002199:ATAC-STARR-seq lymphoblastoid active region 28684 [Gene]
  • LOC130002200:ATAC-STARR-seq lymphoblastoid active region 28685 [Gene]
  • LOC130002201:ATAC-STARR-seq lymphoblastoid active region 28686 [Gene]
  • LOC130002202:ATAC-STARR-seq lymphoblastoid active region 28687 [Gene]
  • LOC130002205:ATAC-STARR-seq lymphoblastoid active region 28688 [Gene]
  • LOC130002206:ATAC-STARR-seq lymphoblastoid active region 28689 [Gene]
  • LOC130002207:ATAC-STARR-seq lymphoblastoid active region 28690 [Gene]
  • LOC130002208:ATAC-STARR-seq lymphoblastoid active region 28691 [Gene]
  • LOC130002121:ATAC-STARR-seq lymphoblastoid silent region 20058 [Gene]
  • LOC130002122:ATAC-STARR-seq lymphoblastoid silent region 20059 [Gene]
  • LOC130002123:ATAC-STARR-seq lymphoblastoid silent region 20060 [Gene]
  • LOC130002124:ATAC-STARR-seq lymphoblastoid silent region 20061 [Gene]
  • LOC130002125:ATAC-STARR-seq lymphoblastoid silent region 20062 [Gene]
  • LOC130002126:ATAC-STARR-seq lymphoblastoid silent region 20063 [Gene]
  • LOC130002128:ATAC-STARR-seq lymphoblastoid silent region 20064 [Gene]
  • LOC130002129:ATAC-STARR-seq lymphoblastoid silent region 20065 [Gene]
  • LOC130002130:ATAC-STARR-seq lymphoblastoid silent region 20067 [Gene]
  • LOC130002131:ATAC-STARR-seq lymphoblastoid silent region 20068 [Gene]
  • LOC130002132:ATAC-STARR-seq lymphoblastoid silent region 20069 [Gene]
  • LOC130002133:ATAC-STARR-seq lymphoblastoid silent region 20071 [Gene]
  • LOC130002135:ATAC-STARR-seq lymphoblastoid silent region 20074 [Gene]
  • LOC130002140:ATAC-STARR-seq lymphoblastoid silent region 20075 [Gene]
  • LOC130002144:ATAC-STARR-seq lymphoblastoid silent region 20076 [Gene]
  • LOC130002146:ATAC-STARR-seq lymphoblastoid silent region 20077 [Gene]
  • LOC130002147:ATAC-STARR-seq lymphoblastoid silent region 20078 [Gene]
  • LOC130002150:ATAC-STARR-seq lymphoblastoid silent region 20079 [Gene]
  • LOC130002151:ATAC-STARR-seq lymphoblastoid silent region 20080 [Gene]
  • LOC130002153:ATAC-STARR-seq lymphoblastoid silent region 20083 [Gene]
  • LOC130002154:ATAC-STARR-seq lymphoblastoid silent region 20084 [Gene]
  • LOC130002155:ATAC-STARR-seq lymphoblastoid silent region 20085 [Gene]
  • LOC130002156:ATAC-STARR-seq lymphoblastoid silent region 20086 [Gene]
  • LOC130002157:ATAC-STARR-seq lymphoblastoid silent region 20087 [Gene]
  • LOC130002158:ATAC-STARR-seq lymphoblastoid silent region 20088 [Gene]
  • LOC130002159:ATAC-STARR-seq lymphoblastoid silent region 20089 [Gene]
  • LOC130002160:ATAC-STARR-seq lymphoblastoid silent region 20090 [Gene]
  • LOC130002161:ATAC-STARR-seq lymphoblastoid silent region 20091 [Gene]
  • LOC130002162:ATAC-STARR-seq lymphoblastoid silent region 20092 [Gene]
  • LOC130002163:ATAC-STARR-seq lymphoblastoid silent region 20093 [Gene]
  • LOC130002165:ATAC-STARR-seq lymphoblastoid silent region 20094 [Gene]
  • LOC130002166:ATAC-STARR-seq lymphoblastoid silent region 20095 [Gene]
  • LOC130002167:ATAC-STARR-seq lymphoblastoid silent region 20096 [Gene]
  • LOC130002168:ATAC-STARR-seq lymphoblastoid silent region 20097 [Gene]
  • LOC130002170:ATAC-STARR-seq lymphoblastoid silent region 20098 [Gene]
  • LOC130002176:ATAC-STARR-seq lymphoblastoid silent region 20101 [Gene]
  • LOC130002188:ATAC-STARR-seq lymphoblastoid silent region 20102 [Gene]
  • LOC130002190:ATAC-STARR-seq lymphoblastoid silent region 20103 [Gene]
  • LOC130002192:ATAC-STARR-seq lymphoblastoid silent region 20107 [Gene]
  • LOC130002193:ATAC-STARR-seq lymphoblastoid silent region 20108 [Gene]
  • LOC130002194:ATAC-STARR-seq lymphoblastoid silent region 20109 [Gene]
  • LOC130002195:ATAC-STARR-seq lymphoblastoid silent region 20110 [Gene]
  • LOC130002198:ATAC-STARR-seq lymphoblastoid silent region 20111 [Gene]
  • LOC130002203:ATAC-STARR-seq lymphoblastoid silent region 20112 [Gene]
  • LOC130002204:ATAC-STARR-seq lymphoblastoid silent region 20113 [Gene]
  • LOC130002209:ATAC-STARR-seq lymphoblastoid silent region 20115 [Gene]
  • LOC126860694:BRD4-independent group 4 enhancer GRCh37_chr9:100226535-100227734 [Gene]
  • LOC126860688:BRD4-independent group 4 enhancer GRCh37_chr9:98596601-98597800 [Gene]
  • LOC126860689:BRD4-independent group 4 enhancer GRCh37_chr9:98850190-98851389 [Gene]
  • LOC126860690:BRD4-independent group 4 enhancer GRCh37_chr9:99182517-99183716 [Gene]
  • LOC126860691:BRD4-independent group 4 enhancer GRCh37_chr9:99284685-99285884 [Gene]
  • LOC126860695:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:100465986-100467185 [Gene]
  • LOC126860696:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:100520047-100521246 [Gene]
  • LOC126860697:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:100571176-100572375 [Gene]
  • LOC126860686:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:97780096-97781295 [Gene]
  • LOC126860687:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:97785561-97786760 [Gene]
  • LOC113839574:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:98389397-98390596 [Gene]
  • LOC126860693:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:99646252-99647451 [Gene]
  • LOC116186943:CRISPRi-validated cis-regulatory element chr9.1594 [Gene]
  • ERCC6L2:ERCC excision repair 6 like 2 [Gene - OMIM - HGNC]
  • ERCC6L2-AS1:ERCC6L2 antisense RNA 1 [Gene - HGNC]
  • FANCC:FA complementation group C [Gene - OMIM - HGNC]
  • LOC111500312:GATA motif-containing MPRA enhancer 268 [Gene]
  • HSD17B3-AS1:HSD17B3 antisense RNA 1 [Gene - HGNC]
  • LOC129390097:MPRA-validated peak7299 silencer [Gene]
  • LOC129390098:MPRA-validated peak7301 silencer [Gene]
  • NANS:N-acetylneuraminate synthase [Gene - OMIM - HGNC]
  • NUTM2G:NUT family member 2G [Gene - HGNC]
  • LOC132090794:Neanderthal introgressed variant-containing enhancer experimental_110389 [Gene]
  • LOC132089729:Neanderthal introgressed variant-containing enhancer experimental_110405 [Gene]
  • LOC132089730:Neanderthal introgressed variant-containing enhancer experimental_110431 [Gene]
  • LOC132089731:Neanderthal introgressed variant-containing enhancer experimental_110513 [Gene]
  • LOC132089732:Neanderthal introgressed variant-containing enhancer experimental_110548 [Gene]
  • LOC132089733:Neanderthal introgressed variant-containing enhancer experimental_110630 [Gene]
  • LOC132089734:Neanderthal introgressed variant-containing enhancer experimental_110687 [Gene]
  • LOC132089735:Neanderthal introgressed variant-containing enhancer experimental_110694 [Gene]
  • LOC132089736:Neanderthal introgressed variant-containing enhancer experimental_110728 [Gene]
  • LOC132089737:Neanderthal introgressed variant-containing enhancer experimental_110786 [Gene]
  • LOC132089738:Neanderthal introgressed variant-containing enhancer experimental_110853 [Gene]
  • LOC132089739:Neanderthal introgressed variant-containing enhancer experimental_110866 [Gene]
  • LOC132089740:Neanderthal introgressed variant-containing enhancer experimental_110873 [Gene]
  • LOC126860698:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:100797789-100798988 [Gene]
  • LOC126860685:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:97482699-97483898 [Gene]
  • LOC126860692:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:99636216-99637415 [Gene]
  • SLC35D2-HSD17B3:SLC35D2-HSD17B3 readthrough [Gene]
  • SUGT1P4-STRA6LP-CCDC180:SUGT1P4-STRA6LP-CCDC180 readthrough [Gene - HGNC]
  • LOC124310603:Sharpr-MPRA regulatory region 10311 [Gene]
  • LOC124310592:Sharpr-MPRA regulatory region 10357 [Gene]
  • LOC124310599:Sharpr-MPRA regulatory region 1060 [Gene]
  • LOC124310595:Sharpr-MPRA regulatory region 10736 [Gene]
  • LOC124310600:Sharpr-MPRA regulatory region 12092 [Gene]
  • LOC124310604:Sharpr-MPRA regulatory region 12242 [Gene]
  • LOC121331336:Sharpr-MPRA regulatory region 13927 [Gene]
  • LOC124310594:Sharpr-MPRA regulatory region 14176 [Gene]
  • LOC124310597:Sharpr-MPRA regulatory region 1665 [Gene]
  • LOC124310598:Sharpr-MPRA regulatory region 1693 [Gene]
  • LOC124310607:Sharpr-MPRA regulatory region 2004 [Gene]
  • LOC124310593:Sharpr-MPRA regulatory region 2222 [Gene]
  • LOC121811711:Sharpr-MPRA regulatory region 3853 [Gene]
  • LOC124310609:Sharpr-MPRA regulatory region 4249 [Gene]
  • LOC121331337:Sharpr-MPRA regulatory region 563 [Gene]
  • LOC121331335:Sharpr-MPRA regulatory region 6609 [Gene]
  • LOC124310605:Sharpr-MPRA regulatory region 737 [Gene]
  • LOC124310608:Sharpr-MPRA regulatory region 7780 [Gene]
  • LOC124310606:Sharpr-MPRA regulatory region 7929 [Gene]
  • LOC124310596:Sharpr-MPRA regulatory region 8238 [Gene]
  • LOC124310601:Sharpr-MPRA regulatory region 8876 [Gene]
  • LOC124310602:Sharpr-MPRA regulatory region 9073 [Gene]
  • LOC113839495:Sharpr-MPRA regulatory region 9871 [Gene]
  • LOC110121043:VISTA enhancer hs1258 [Gene]
  • LOC110121093:VISTA enhancer hs1417 [Gene]
  • LOC114827821:VISTA enhancer hs1595 [Gene]
  • LOC110121153:VISTA enhancer hs1596 [Gene]
  • LOC110121154:VISTA enhancers hs1597 and hs1717 [Gene]
  • XPA:XPA, DNA damage recognition and repair factor [Gene - OMIM - HGNC]
  • ANP32B:acidic nuclear phosphoprotein 32 family member B [Gene - OMIM - HGNC]
  • AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
  • CTSV:cathepsin V [Gene - OMIM - HGNC]
  • CDC14B:cell division cycle 14B [Gene - OMIM - HGNC]
  • CCDC180:coiled-coil domain containing 180 [Gene - HGNC]
  • CORO2A:coronin 2A [Gene - OMIM - HGNC]
  • FOXE1:forkhead box E1 [Gene - OMIM - HGNC]
  • HEMGN:hemogen [Gene - OMIM - HGNC]
  • HABP4:hyaluronan binding protein 4 [Gene - OMIM - HGNC]
  • HSD17B3:hydroxysteroid 17-beta dehydrogenase 3 [Gene - OMIM - HGNC]
  • LINC00092:long intergenic non-protein coding RNA 92 [Gene - HGNC]
  • MFSD14C:major facilitator superfamily domain containing 14C [Gene - HGNC]
  • MIR1302-8:microRNA 1302-8 [Gene - HGNC]
  • MIR2278:microRNA 2278 [Gene - HGNC]
  • MIR23B:microRNA 23b [Gene - OMIM - HGNC]
  • MIR24-1:microRNA 24-1 [Gene - OMIM - HGNC]
  • MIR27B:microRNA 27b [Gene - OMIM - HGNC]
  • MIR3074:microRNA 3074 [Gene - HGNC]
  • MIR6081:microRNA 6081 [Gene - HGNC]
  • NCBP1:nuclear cap binding protein subunit 1 [Gene - OMIM - HGNC]
  • PTCSC2:papillary thyroid carcinoma susceptibility candidate 2 [Gene - HGNC]
  • PTCH1:patched 1 [Gene - OMIM - HGNC]
  • PRXL2C:peroxiredoxin like 2C [Gene - HGNC]
  • SLC35D2:solute carrier family 35 member D2 [Gene - OMIM - HGNC]
  • TRMO:tRNA methyltransferase O [Gene - HGNC]
  • TSTD2:thiosulfate sulfurtransferase like domain containing 2 [Gene - HGNC]
  • TRIM14:tripartite motif containing 14 [Gene - OMIM - HGNC]
  • TMOD1:tropomodulin 1 [Gene - OMIM - HGNC]
  • TDRD7:tudor domain containing 7 [Gene - OMIM - HGNC]
  • LOC100507346:uncharacterized LOC100507346 [Gene]
  • LOC101928119:uncharacterized LOC101928119 [Gene]
  • LOC105376156:uncharacterized LOC105376156 [Gene]
  • LOC105376159:uncharacterized LOC105376159 [Gene]
  • LOC158434:uncharacterized LOC158434 [Gene]
  • LOC158435:uncharacterized LOC158435 [Gene]
  • LOC286359:uncharacterized LOC286359 [Gene]
  • ZNF367:zinc finger protein 367 [Gene - OMIM - HGNC]
  • ZNF510:zinc finger protein 510 [Gene - OMIM - HGNC]
  • ZNF782:zinc finger protein 782 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q22.32-22.33
Genomic location:
Preferred name:
GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1
HGVS:
  • NC_000009.12:g.(?_94713892)_(98121186_?)del
  • NC_000009.10:g.(?_96515995)_(99923289_?)del
  • NC_000009.11:g.(?_97476174)_(100883468_?)del
Links:
dbVar: nssv585189; dbVar: nsv498477
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
SCV000174983GeneDx
no assertion criteria provided
Pathogenic
(Nov 30, 2010) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000174983.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023