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GRCh38/hg38 9q34.11(chr9:129036400-130578683)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:
RCV000053778.6

Allele description [Variation Report for GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3]

GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3

Genes:
  • LOC130002734:ATAC-STARR-seq lymphoblastoid active region 29101 [Gene]
  • LOC130002735:ATAC-STARR-seq lymphoblastoid active region 29102 [Gene]
  • LOC130002738:ATAC-STARR-seq lymphoblastoid active region 29104 [Gene]
  • LOC130002739:ATAC-STARR-seq lymphoblastoid active region 29107 [Gene]
  • LOC130002740:ATAC-STARR-seq lymphoblastoid active region 29108 [Gene]
  • LOC130002746:ATAC-STARR-seq lymphoblastoid active region 29110 [Gene]
  • LOC130002748:ATAC-STARR-seq lymphoblastoid active region 29111 [Gene]
  • LOC130002755:ATAC-STARR-seq lymphoblastoid active region 29112 [Gene]
  • LOC130002757:ATAC-STARR-seq lymphoblastoid active region 29113 [Gene]
  • LOC130002758:ATAC-STARR-seq lymphoblastoid active region 29114 [Gene]
  • LOC130002760:ATAC-STARR-seq lymphoblastoid active region 29115 [Gene]
  • LOC130002763:ATAC-STARR-seq lymphoblastoid active region 29117 [Gene]
  • LOC130002764:ATAC-STARR-seq lymphoblastoid active region 29118 [Gene]
  • LOC130002766:ATAC-STARR-seq lymphoblastoid active region 29119 [Gene]
  • LOC130002767:ATAC-STARR-seq lymphoblastoid active region 29120 [Gene]
  • LOC130002770:ATAC-STARR-seq lymphoblastoid active region 29121 [Gene]
  • LOC130002772:ATAC-STARR-seq lymphoblastoid active region 29122 [Gene]
  • LOC130002774:ATAC-STARR-seq lymphoblastoid active region 29123 [Gene]
  • LOC130002775:ATAC-STARR-seq lymphoblastoid active region 29125 [Gene]
  • LOC130002777:ATAC-STARR-seq lymphoblastoid active region 29126 [Gene]
  • LOC130002778:ATAC-STARR-seq lymphoblastoid active region 29128 [Gene]
  • LOC130002779:ATAC-STARR-seq lymphoblastoid active region 29129 [Gene]
  • LOC130002780:ATAC-STARR-seq lymphoblastoid active region 29130 [Gene]
  • LOC130002781:ATAC-STARR-seq lymphoblastoid active region 29131 [Gene]
  • LOC130002782:ATAC-STARR-seq lymphoblastoid active region 29132 [Gene]
  • LOC130002784:ATAC-STARR-seq lymphoblastoid active region 29133 [Gene]
  • LOC130002785:ATAC-STARR-seq lymphoblastoid active region 29134 [Gene]
  • LOC130002786:ATAC-STARR-seq lymphoblastoid active region 29135 [Gene]
  • LOC130002787:ATAC-STARR-seq lymphoblastoid active region 29136 [Gene]
  • LOC130002788:ATAC-STARR-seq lymphoblastoid active region 29137 [Gene]
  • LOC130002789:ATAC-STARR-seq lymphoblastoid active region 29138 [Gene]
  • LOC130002790:ATAC-STARR-seq lymphoblastoid active region 29139 [Gene]
  • LOC130002791:ATAC-STARR-seq lymphoblastoid active region 29140 [Gene]
  • LOC130002792:ATAC-STARR-seq lymphoblastoid active region 29141 [Gene]
  • LOC130002793:ATAC-STARR-seq lymphoblastoid active region 29142 [Gene]
  • LOC130002794:ATAC-STARR-seq lymphoblastoid active region 29143 [Gene]
  • LOC130002795:ATAC-STARR-seq lymphoblastoid active region 29144 [Gene]
  • LOC130002796:ATAC-STARR-seq lymphoblastoid active region 29145 [Gene]
  • LOC130002797:ATAC-STARR-seq lymphoblastoid active region 29146 [Gene]
  • LOC130002798:ATAC-STARR-seq lymphoblastoid active region 29148 [Gene]
  • LOC130002804:ATAC-STARR-seq lymphoblastoid active region 29149 [Gene]
  • LOC130002806:ATAC-STARR-seq lymphoblastoid active region 29150 [Gene]
  • LOC130002807:ATAC-STARR-seq lymphoblastoid active region 29151 [Gene]
  • LOC130002808:ATAC-STARR-seq lymphoblastoid active region 29152 [Gene]
  • LOC130002810:ATAC-STARR-seq lymphoblastoid active region 29153 [Gene]
  • LOC130002811:ATAC-STARR-seq lymphoblastoid active region 29154 [Gene]
  • LOC130002733:ATAC-STARR-seq lymphoblastoid silent region 20358 [Gene]
  • LOC130002736:ATAC-STARR-seq lymphoblastoid silent region 20359 [Gene]
  • LOC130002737:ATAC-STARR-seq lymphoblastoid silent region 20360 [Gene]
  • LOC130002741:ATAC-STARR-seq lymphoblastoid silent region 20363 [Gene]
  • LOC130002742:ATAC-STARR-seq lymphoblastoid silent region 20365 [Gene]
  • LOC130002743:ATAC-STARR-seq lymphoblastoid silent region 20366 [Gene]
  • LOC130002744:ATAC-STARR-seq lymphoblastoid silent region 20367 [Gene]
  • LOC130002745:ATAC-STARR-seq lymphoblastoid silent region 20370 [Gene]
  • LOC130002747:ATAC-STARR-seq lymphoblastoid silent region 20371 [Gene]
  • LOC130002749:ATAC-STARR-seq lymphoblastoid silent region 20372 [Gene]
  • LOC130002750:ATAC-STARR-seq lymphoblastoid silent region 20373 [Gene]
  • LOC130002751:ATAC-STARR-seq lymphoblastoid silent region 20374 [Gene]
  • LOC130002752:ATAC-STARR-seq lymphoblastoid silent region 20375 [Gene]
  • LOC130002753:ATAC-STARR-seq lymphoblastoid silent region 20376 [Gene]
  • LOC130002754:ATAC-STARR-seq lymphoblastoid silent region 20377 [Gene]
  • LOC130002756:ATAC-STARR-seq lymphoblastoid silent region 20379 [Gene]
  • LOC130002759:ATAC-STARR-seq lymphoblastoid silent region 20383 [Gene]
  • LOC130002761:ATAC-STARR-seq lymphoblastoid silent region 20384 [Gene]
  • LOC130002762:ATAC-STARR-seq lymphoblastoid silent region 20385 [Gene]
  • LOC130002765:ATAC-STARR-seq lymphoblastoid silent region 20387 [Gene]
  • LOC130002768:ATAC-STARR-seq lymphoblastoid silent region 20388 [Gene]
  • LOC130002769:ATAC-STARR-seq lymphoblastoid silent region 20389 [Gene]
  • LOC130002771:ATAC-STARR-seq lymphoblastoid silent region 20390 [Gene]
  • LOC130002773:ATAC-STARR-seq lymphoblastoid silent region 20391 [Gene]
  • LOC130002776:ATAC-STARR-seq lymphoblastoid silent region 20393 [Gene]
  • LOC130002783:ATAC-STARR-seq lymphoblastoid silent region 20394 [Gene]
  • LOC130002799:ATAC-STARR-seq lymphoblastoid silent region 20395 [Gene]
  • LOC130002800:ATAC-STARR-seq lymphoblastoid silent region 20396 [Gene]
  • LOC130002801:ATAC-STARR-seq lymphoblastoid silent region 20397 [Gene]
  • LOC130002802:ATAC-STARR-seq lymphoblastoid silent region 20398 [Gene]
  • LOC130002803:ATAC-STARR-seq lymphoblastoid silent region 20399 [Gene]
  • LOC130002805:ATAC-STARR-seq lymphoblastoid silent region 20400 [Gene]
  • LOC130002809:ATAC-STARR-seq lymphoblastoid silent region 20401 [Gene]
  • GPR107:G protein-coupled receptor 107 [Gene - OMIM - HGNC]
  • GPRACR:GPR107 adjacent cis regulating lncRNA [Gene - HGNC]
  • LOC111556144:HNF1 motif-containing MPRA enhancer 89 [Gene]
  • IER5L-AS1:IER5L antisense RNA 1 [Gene - HGNC]
  • LOC126860773:MED14-independent group 3 enhancer GRCh37_chr9:131821359-131822558 [Gene]
  • LOC126860774:MED14-independent group 3 enhancer GRCh37_chr9:132096285-132097484 [Gene]
  • NTMT1:N-terminal Xaa-Pro-Lys N-methyltransferase 1 [Gene - OMIM - HGNC]
  • LOC132089667:Neanderthal introgressed variant-containing enhancer experimental_106889 [Gene]
  • PRRX2-AS1:PRRX2 antisense RNA 1 [Gene - HGNC]
  • LOC124310660:Sharpr-MPRA regulatory region 11907 [Gene]
  • LOC113839529:Sharpr-MPRA regulatory region 12063 [Gene]
  • LOC124310663:Sharpr-MPRA regulatory region 12255 [Gene]
  • LOC124310659:Sharpr-MPRA regulatory region 12687 [Gene]
  • LOC124310665:Sharpr-MPRA regulatory region 1290 [Gene]
  • LOC124310661:Sharpr-MPRA regulatory region 13743 [Gene]
  • LOC113839525:Sharpr-MPRA regulatory region 13939 [Gene]
  • LOC113839528:Sharpr-MPRA regulatory region 14524 [Gene]
  • LOC113839526:Sharpr-MPRA regulatory region 2152 [Gene]
  • LOC124310664:Sharpr-MPRA regulatory region 3297 [Gene]
  • LOC114022700:Sharpr-MPRA regulatory region 3625 [Gene]
  • LOC113839530:Sharpr-MPRA regulatory region 4503 [Gene]
  • LOC124310668:Sharpr-MPRA regulatory region 491 [Gene]
  • LOC113839531:Sharpr-MPRA regulatory region 5386 [Gene]
  • LOC124310667:Sharpr-MPRA regulatory region 5428 [Gene]
  • LOC124310662:Sharpr-MPRA regulatory region 5710 [Gene]
  • LOC124310657:Sharpr-MPRA regulatory region 6206 [Gene]
  • LOC121366030:Sharpr-MPRA regulatory region 6917 [Gene]
  • LOC121366029:Sharpr-MPRA regulatory region 8657 [Gene]
  • LOC113839527:Sharpr-MPRA regulatory region 9056 [Gene]
  • LOC124310666:Sharpr-MPRA regulatory region 9235 [Gene]
  • LOC124310658:Sharpr-MPRA regulatory region 9976 [Gene]
  • LOC110121061:VISTA enhancer hs1328 [Gene]
  • ASB6:ankyrin repeat and SOCS box containing 6 [Gene - OMIM - HGNC]
  • ASS1:argininosuccinate synthase 1 [Gene - OMIM - HGNC]
  • CRAT:carnitine O-acetyltransferase [Gene - OMIM - HGNC]
  • C9orf50:chromosome 9 open reading frame 50 [Gene - HGNC]
  • C9orf78:chromosome 9 open reading frame 78 [Gene - OMIM - HGNC]
  • DOLPP1:dolichyldiphosphatase 1 [Gene - OMIM - HGNC]
  • FNBP1:formin binding protein 1 [Gene - OMIM - HGNC]
  • HMCN2:hemicentin 2 [Gene - HGNC]
  • IER5L:immediate early response 5 like [Gene - HGNC]
  • LINC01503:long intergenic non-protein coding RNA 1503 [Gene - HGNC]
  • LINC02913:long intergenic non-protein coding RNA 2913 [Gene - HGNC]
  • LINC02975:long intergenic non-protein coding RNA 2975 [Gene - HGNC]
  • LINC00963:long intergenic non-protein coding RNA 963 [Gene - HGNC]
  • MIR12126:microRNA 12126 [Gene - HGNC]
  • MIR6855:microRNA 6855 [Gene - HGNC]
  • MIGA2:mitoguardin 2 [Gene - OMIM - HGNC]
  • NCS1:neuronal calcium sensor 1 [Gene - OMIM - HGNC]
  • PRRX2:paired related homeobox 2 [Gene - OMIM - HGNC]
  • PTGES:prostaglandin E synthase [Gene - OMIM - HGNC]
  • PTPA:protein phosphatase 2 phosphatase activator [Gene - OMIM - HGNC]
  • TOR1A:torsin family 1 member A [Gene - OMIM - HGNC]
  • TOR1B:torsin family 1 member B [Gene - OMIM - HGNC]
  • USP20:ubiquitin specific peptidase 20 [Gene - OMIM - HGNC]
  • LOC100272217:uncharacterized LOC100272217 [Gene]
  • LOC105376291:uncharacterized LOC105376291 [Gene]
  • LOC105376292:uncharacterized LOC105376292 [Gene]
Variant type:
copy number gain
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3
HGVS:
  • NC_000009.12:g.(?_129036400)_(130578683_?)dup
  • NC_000009.10:g.(?_130838500)_(132443891_?)dup
  • NC_000009.11:g.(?_131798679)_(133454070_?)dup
Links:
dbVar: nssv579141; dbVar: nsv532436
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
SCV000081141GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000081141.5

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

Last Updated: Oct 14, 2023