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GRCh38/hg38 7q11.23(chr7:73286412-74725240)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:
RCV000053146.7

Allele description [Variation Report for GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3]

GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3

Genes:
  • ABHD11-AS1:ABHD11 antisense RNA 1 (tail to tail) [Gene - OMIM - HGNC]
  • LOC129998584:ATAC-STARR-seq lymphoblastoid active region 26121 [Gene]
  • LOC129998585:ATAC-STARR-seq lymphoblastoid active region 26122 [Gene]
  • LOC129998588:ATAC-STARR-seq lymphoblastoid active region 26123 [Gene]
  • LOC129998590:ATAC-STARR-seq lymphoblastoid active region 26124 [Gene]
  • LOC129998596:ATAC-STARR-seq lymphoblastoid active region 26125 [Gene]
  • LOC129998602:ATAC-STARR-seq lymphoblastoid active region 26126 [Gene]
  • LOC129998603:ATAC-STARR-seq lymphoblastoid active region 26127 [Gene]
  • LOC129998609:ATAC-STARR-seq lymphoblastoid active region 26129 [Gene]
  • LOC129998611:ATAC-STARR-seq lymphoblastoid active region 26130 [Gene]
  • LOC129998613:ATAC-STARR-seq lymphoblastoid active region 26131 [Gene]
  • LOC129998615:ATAC-STARR-seq lymphoblastoid active region 26134 [Gene]
  • LOC129998618:ATAC-STARR-seq lymphoblastoid active region 26136 [Gene]
  • LOC129998619:ATAC-STARR-seq lymphoblastoid active region 26138 [Gene]
  • LOC129998620:ATAC-STARR-seq lymphoblastoid active region 26139 [Gene]
  • LOC129998621:ATAC-STARR-seq lymphoblastoid active region 26140 [Gene]
  • LOC129998622:ATAC-STARR-seq lymphoblastoid active region 26141 [Gene]
  • LOC129998624:ATAC-STARR-seq lymphoblastoid active region 26142 [Gene]
  • LOC129998626:ATAC-STARR-seq lymphoblastoid active region 26143 [Gene]
  • LOC129998627:ATAC-STARR-seq lymphoblastoid active region 26144 [Gene]
  • LOC129998628:ATAC-STARR-seq lymphoblastoid active region 26145 [Gene]
  • LOC129998629:ATAC-STARR-seq lymphoblastoid active region 26146 [Gene]
  • LOC129998630:ATAC-STARR-seq lymphoblastoid active region 26149 [Gene]
  • LOC129998631:ATAC-STARR-seq lymphoblastoid active region 26150 [Gene]
  • LOC129998632:ATAC-STARR-seq lymphoblastoid active region 26151 [Gene]
  • LOC129998633:ATAC-STARR-seq lymphoblastoid active region 26152 [Gene]
  • LOC129998634:ATAC-STARR-seq lymphoblastoid active region 26153 [Gene]
  • LOC129998635:ATAC-STARR-seq lymphoblastoid active region 26154 [Gene]
  • LOC129998636:ATAC-STARR-seq lymphoblastoid active region 26155 [Gene]
  • LOC129998637:ATAC-STARR-seq lymphoblastoid active region 26156 [Gene]
  • LOC129998638:ATAC-STARR-seq lymphoblastoid active region 26157 [Gene]
  • LOC129998639:ATAC-STARR-seq lymphoblastoid active region 26158 [Gene]
  • LOC129998644:ATAC-STARR-seq lymphoblastoid active region 26159 [Gene]
  • LOC129998645:ATAC-STARR-seq lymphoblastoid active region 26160 [Gene]
  • LOC129998646:ATAC-STARR-seq lymphoblastoid active region 26161 [Gene]
  • LOC129998647:ATAC-STARR-seq lymphoblastoid active region 26162 [Gene]
  • LOC129998648:ATAC-STARR-seq lymphoblastoid active region 26165 [Gene]
  • LOC129998652:ATAC-STARR-seq lymphoblastoid active region 26166 [Gene]
  • LOC129998654:ATAC-STARR-seq lymphoblastoid active region 26167 [Gene]
  • LOC129998655:ATAC-STARR-seq lymphoblastoid active region 26168 [Gene]
  • LOC129998659:ATAC-STARR-seq lymphoblastoid active region 26169 [Gene]
  • LOC129998660:ATAC-STARR-seq lymphoblastoid active region 26170 [Gene]
  • LOC129998661:ATAC-STARR-seq lymphoblastoid active region 26172 [Gene]
  • LOC129998662:ATAC-STARR-seq lymphoblastoid active region 26173 [Gene]
  • LOC129998663:ATAC-STARR-seq lymphoblastoid active region 26174 [Gene]
  • LOC129998664:ATAC-STARR-seq lymphoblastoid active region 26175 [Gene]
  • LOC129998586:ATAC-STARR-seq lymphoblastoid silent region 18246 [Gene]
  • LOC129998587:ATAC-STARR-seq lymphoblastoid silent region 18248 [Gene]
  • LOC129998589:ATAC-STARR-seq lymphoblastoid silent region 18249 [Gene]
  • LOC129998591:ATAC-STARR-seq lymphoblastoid silent region 18250 [Gene]
  • LOC129998592:ATAC-STARR-seq lymphoblastoid silent region 18251 [Gene]
  • LOC129998593:ATAC-STARR-seq lymphoblastoid silent region 18252 [Gene]
  • LOC129998594:ATAC-STARR-seq lymphoblastoid silent region 18253 [Gene]
  • LOC129998595:ATAC-STARR-seq lymphoblastoid silent region 18254 [Gene]
  • LOC129998597:ATAC-STARR-seq lymphoblastoid silent region 18255 [Gene]
  • LOC129998598:ATAC-STARR-seq lymphoblastoid silent region 18256 [Gene]
  • LOC129998599:ATAC-STARR-seq lymphoblastoid silent region 18257 [Gene]
  • LOC129998600:ATAC-STARR-seq lymphoblastoid silent region 18258 [Gene]
  • LOC129998601:ATAC-STARR-seq lymphoblastoid silent region 18259 [Gene]
  • LOC129998604:ATAC-STARR-seq lymphoblastoid silent region 18260 [Gene]
  • LOC129998605:ATAC-STARR-seq lymphoblastoid silent region 18261 [Gene]
  • LOC129998606:ATAC-STARR-seq lymphoblastoid silent region 18262 [Gene]
  • LOC129998607:ATAC-STARR-seq lymphoblastoid silent region 18263 [Gene]
  • LOC129998608:ATAC-STARR-seq lymphoblastoid silent region 18264 [Gene]
  • LOC129998610:ATAC-STARR-seq lymphoblastoid silent region 18267 [Gene]
  • LOC129998612:ATAC-STARR-seq lymphoblastoid silent region 18268 [Gene]
  • LOC129998614:ATAC-STARR-seq lymphoblastoid silent region 18269 [Gene]
  • LOC129998616:ATAC-STARR-seq lymphoblastoid silent region 18271 [Gene]
  • LOC129998617:ATAC-STARR-seq lymphoblastoid silent region 18272 [Gene]
  • LOC129998623:ATAC-STARR-seq lymphoblastoid silent region 18274 [Gene]
  • LOC129998625:ATAC-STARR-seq lymphoblastoid silent region 18275 [Gene]
  • LOC129998640:ATAC-STARR-seq lymphoblastoid silent region 18277 [Gene]
  • LOC129998641:ATAC-STARR-seq lymphoblastoid silent region 18279 [Gene]
  • LOC129998642:ATAC-STARR-seq lymphoblastoid silent region 18280 [Gene]
  • LOC129998643:ATAC-STARR-seq lymphoblastoid silent region 18281 [Gene]
  • LOC129998649:ATAC-STARR-seq lymphoblastoid silent region 18282 [Gene]
  • LOC129998650:ATAC-STARR-seq lymphoblastoid silent region 18283 [Gene]
  • LOC129998651:ATAC-STARR-seq lymphoblastoid silent region 18284 [Gene]
  • LOC129998653:ATAC-STARR-seq lymphoblastoid silent region 18285 [Gene]
  • LOC129998656:ATAC-STARR-seq lymphoblastoid silent region 18286 [Gene]
  • LOC129998657:ATAC-STARR-seq lymphoblastoid silent region 18287 [Gene]
  • LOC129998658:ATAC-STARR-seq lymphoblastoid silent region 18288 [Gene]
  • BCL7B:BAF chromatin remodeling complex subunit BCL7B [Gene - OMIM - HGNC]
  • BUD23:BUD23 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
  • LOC108254673:CAGE-defined high expression enhancer upstream of GTF2IRD1 [Gene]
  • CLIP2:CAP-Gly domain containing linker protein 2 [Gene - OMIM - HGNC]
  • LOC126860074:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:73417073-73418272 [Gene]
  • DNAJC30:DnaJ heat shock protein family (Hsp40) member C30 [Gene - OMIM - HGNC]
  • ELN-AS1:ELN antisense RNA 1 [Gene - HGNC]
  • FKBP6:FKBP prolyl isomerase family member 6 (inactive) [Gene - OMIM - HGNC]
  • GTF2I-AS1:GTF2I antisense RNA 1 [Gene - HGNC]
  • GTF2IRD1:GTF2I repeat domain containing 1 [Gene - OMIM - HGNC]
  • LIMK1:LIM domain kinase 1 [Gene - OMIM - HGNC]
  • LOC126860073:MED14-independent group 3 enhancer GRCh37_chr7:73236582-73237781 [Gene]
  • MLXIPL:MLX interacting protein like [Gene - OMIM - HGNC]
  • LOC111413044:NFE2L2 motif-containing MPRA enhancer 193 [Gene]
  • NSUN5:NOP2/Sun RNA methyltransferase 5 [Gene - OMIM - HGNC]
  • LOC126860072:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:73156848-73158047 [Gene]
  • LOC123956159:Sharpr-MPRA regulatory region 10074 [Gene]
  • LOC123956162:Sharpr-MPRA regulatory region 1083 [Gene]
  • LOC123956163:Sharpr-MPRA regulatory region 11240 [Gene]
  • LOC121175345:Sharpr-MPRA regulatory region 11638 [Gene]
  • LOC113748411:Sharpr-MPRA regulatory region 11846 [Gene]
  • LOC113748409:Sharpr-MPRA regulatory region 14121 [Gene]
  • LOC123956164:Sharpr-MPRA regulatory region 2459 [Gene]
  • LOC123956160:Sharpr-MPRA regulatory region 5103 [Gene]
  • LOC113748410:Sharpr-MPRA regulatory region 6518 [Gene]
  • LOC121740686:Sharpr-MPRA regulatory region 8209 [Gene]
  • LOC113748408:Sharpr-MPRA regulatory region 8580 [Gene]
  • LOC123956161:Sharpr-MPRA regulatory region 8848 [Gene]
  • LOC113748407:Sharpr-MPRA regulatory region 8994 [Gene]
  • LOC121175346:Sharpr-MPRA regulatory region 9451 [Gene]
  • VPS37D:VPS37D subunit of ESCRT-I [Gene - OMIM - HGNC]
  • ABHD11:abhydrolase domain containing 11 [Gene - HGNC]
  • BAZ1B:bromodomain adjacent to zinc finger domain 1B [Gene - OMIM - HGNC]
  • CLDN3:claudin 3 [Gene - OMIM - HGNC]
  • CLDN4:claudin 4 [Gene - OMIM - HGNC]
  • ELN:elastin [Gene - OMIM - HGNC]
  • EIF4H:eukaryotic translation initiation factor 4H [Gene - OMIM - HGNC]
  • FZD9:frizzled class receptor 9 [Gene - OMIM - HGNC]
  • GTF2I:general transcription factor IIi [Gene - OMIM - HGNC]
  • LAT2:linker for activation of T cells family member 2 [Gene - OMIM - HGNC]
  • METTL27:methyltransferase like 27 [Gene - OMIM - HGNC]
  • MIR10525:microRNA 10525 [Gene - HGNC]
  • MIR4284:microRNA 4284 [Gene - HGNC]
  • MIR590:microRNA 590 [Gene - OMIM - HGNC]
  • RFC2:replication factor C subunit 2 [Gene - OMIM - HGNC]
  • STX1A:syntaxin 1A [Gene - OMIM - HGNC]
  • TBL2:transducin beta like 2 [Gene - OMIM - HGNC]
  • TMEM270:transmembrane protein 270 [Gene - OMIM - HGNC]
  • TRIM50:tripartite motif containing 50 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3
HGVS:
  • NC_000007.14:g.(?_73286412)_(74725240_?)dup
  • NC_000007.12:g.(?_72338350)_(73777509_?)dup
  • NC_000007.13:g.(?_72700414)_(74139573_?)dup
Links:
dbVar: nssv577112; dbVar: nsv531833
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
SCV000080502ISCA Site 6

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 6, SCV000080502.5

#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