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GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1 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:
RCV000050580.6

Allele description [Variation Report for GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1]

GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1

Genes:
  • ADAMTSL1:ADAMTS like 1 [Gene - OMIM - HGNC]
  • LOC130001564:ATAC-STARR-seq lymphoblastoid active region 28214 [Gene]
  • LOC130001566:ATAC-STARR-seq lymphoblastoid active region 28216 [Gene]
  • LOC130001567:ATAC-STARR-seq lymphoblastoid active region 28217 [Gene]
  • LOC130001558:ATAC-STARR-seq lymphoblastoid silent region 19773 [Gene]
  • LOC130001559:ATAC-STARR-seq lymphoblastoid silent region 19774 [Gene]
  • LOC130001560:ATAC-STARR-seq lymphoblastoid silent region 19775 [Gene]
  • LOC130001561:ATAC-STARR-seq lymphoblastoid silent region 19776 [Gene]
  • LOC130001562:ATAC-STARR-seq lymphoblastoid silent region 19777 [Gene]
  • LOC130001563:ATAC-STARR-seq lymphoblastoid silent region 19780 [Gene]
  • LOC130001565:ATAC-STARR-seq lymphoblastoid silent region 19788 [Gene]
  • BNC2-AS1:BNC2 antisense RNA 1 [Gene - HGNC]
  • LOC126860581:BRD4-independent group 4 enhancer GRCh37_chr9:13791089-13792288 [Gene]
  • LOC126860579:BRD4-independent group 4 enhancer GRCh37_chr9:9998786-9999985 [Gene]
  • LOC126860584:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:16060174-16061373 [Gene]
  • FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
  • LURAP1L-AS1:LURAP1L antisense RNA 1 [Gene - HGNC]
  • LOC126860585:MED14-independent group 3 enhancer GRCh37_chr9:16435259-16436458 [Gene]
  • LOC126860586:MED14-independent group 3 enhancer GRCh37_chr9:16867432-16868631 [Gene]
  • NFIB-AS1:NFIB antisense RNA 1 [Gene - HGNC]
  • LOC132089668:Neanderthal introgressed variant-containing enhancer experimental_107116 [Gene]
  • LOC126860580:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:12814001-12815200 [Gene]
  • LOC126860582:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:14812530-14813729 [Gene]
  • LOC126860583:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:16030074-16031273 [Gene]
  • PSIP1:PC4 and SRSF1 interacting protein 1 [Gene - OMIM - HGNC]
  • PTPRD-DT:PTPRD divergent transcript [Gene - HGNC]
  • SH3GL2:SH3 domain containing GRB2 like 2, endophilin A1 [Gene - OMIM - HGNC]
  • LOC124210616:Sharpr-MPRA regulatory region 14432 [Gene]
  • LOC124225047:Sharpr-MPRA regulatory region 14550 [Gene]
  • LOC121811699:Sharpr-MPRA regulatory region 1681 [Gene]
  • LOC124225050:Sharpr-MPRA regulatory region 4176 [Gene]
  • LOC124225051:Sharpr-MPRA regulatory region 5074 [Gene]
  • LOC124225053:Sharpr-MPRA regulatory region 7105 [Gene]
  • LOC113839543:Sharpr-MPRA regulatory region 7975 [Gene]
  • LOC124225052:Sharpr-MPRA regulatory region 8525 [Gene]
  • LOC124225048:Sharpr-MPRA regulatory region 8614 [Gene]
  • LOC124225049:Sharpr-MPRA regulatory region 8618 [Gene]
  • LOC121331320:Sharpr-MPRA regulatory region 8712 [Gene]
  • LOC124210615:Sharpr-MPRA regulatory region 873 [Gene]
  • LOC124225054:Sharpr-MPRA regulatory region 9002 [Gene]
  • LOC110120656:VISTA enhancer hs305 [Gene]
  • LOC110120657:VISTA enhancer hs307 [Gene]
  • LOC110120694:VISTA enhancer hs529 [Gene]
  • LOC110120788:VISTA enhancer hs852 [Gene]
  • BNC2:basonuclin zinc finger protein 2 [Gene - OMIM - HGNC]
  • CNTLN:centlein [Gene - OMIM - HGNC]
  • CER1:cerberus 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • CCDC171:coiled-coil domain containing 171 [Gene - HGNC]
  • LURAP1L:leucine rich adaptor protein 1 like [Gene - OMIM - HGNC]
  • LINC01235:long intergenic non-protein coding RNA 1235 [Gene - HGNC]
  • LINC03041:long intergenic non-protein coding RNA 3041 [Gene - HGNC]
  • LINC00583:long intergenic non-protein coding RNA 583 [Gene - HGNC]
  • LOC128772329:melanoma risk locus-associated MPRA allelic enhancer 9:12581404 [Gene]
  • LOC128772330:melanoma risk locus-associated MPRA allelic enhancer 9:12636264 [Gene]
  • LOC128772331:melanoma risk locus-associated MPRA allelic enhancer 9:12651340 [Gene]
  • LOC128772332:melanoma risk locus-associated MPRA allelic enhancer 9:12660541 [Gene]
  • LOC128772333:melanoma risk locus-associated MPRA allelic enhancer 9:12671566 [Gene]
  • LOC128781591:melanoma risk locus-associated MPRA allelic enhancers 9:12675264 and 9:12675284 [Gene]
  • MPDZ:multiple PDZ domain crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • NFIB:nuclear factor I B [Gene - OMIM - HGNC]
  • PTPRD:protein tyrosine phosphatase receptor type D [Gene - OMIM - HGNC]
  • SNAPC3:small nuclear RNA activating complex polypeptide 3 [Gene - OMIM - HGNC]
  • SNORD137:small nucleolar RNA, C/D box 137 [Gene - HGNC]
  • TRH-GTG1-6:tRNA-His (anticodon GTG) 1-6 [Gene - HGNC]
  • TTC39B:tetratricopeptide repeat domain 39B [Gene - OMIM - HGNC]
  • TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]
  • LOC105375972:uncharacterized LOC105375972 [Gene]
  • LOC105375976:uncharacterized LOC105375976 [Gene]
  • ZDHHC21:zinc finger DHHC-type palmitoyltransferase 21 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9p23-22.2
Genomic location:
Preferred name:
GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1
HGVS:
  • NC_000009.12:g.(?_9661633)_(18034356_?)del
  • NC_000009.10:g.(?_9651633)_(18024354_?)del
  • NC_000009.11:g.(?_9661633)_(18034354_?)del
Links:
dbVar: nssv578321; dbVar: nsv529233
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
SCV000077904ISCA site 4

See additional submitters

criteria provided, single submitter

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

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 ISCA site 4, SCV000077904.4

#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