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GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 8, 2011
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:
RCV000137347.5

Allele description

GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1

Genes:
  • ADPGK:ADP dependent glucokinase [Gene - OMIM - HGNC]
  • ADPGK-AS1:ADPGK antisense RNA 1 [Gene - HGNC]
  • ARID3B:AT-rich interaction domain 3B [Gene - OMIM - HGNC]
  • LOC130057483:ATAC-STARR-seq lymphoblastoid active region 9728 [Gene]
  • LOC130057485:ATAC-STARR-seq lymphoblastoid active region 9729 [Gene]
  • LOC130057486:ATAC-STARR-seq lymphoblastoid active region 9730 [Gene]
  • LOC130057502:ATAC-STARR-seq lymphoblastoid active region 9731 [Gene]
  • LOC130057503:ATAC-STARR-seq lymphoblastoid active region 9732 [Gene]
  • LOC130057504:ATAC-STARR-seq lymphoblastoid active region 9736 [Gene]
  • LOC130057505:ATAC-STARR-seq lymphoblastoid active region 9737 [Gene]
  • LOC130057507:ATAC-STARR-seq lymphoblastoid active region 9738 [Gene]
  • LOC130057508:ATAC-STARR-seq lymphoblastoid active region 9739 [Gene]
  • LOC130057509:ATAC-STARR-seq lymphoblastoid active region 9740 [Gene]
  • LOC130057510:ATAC-STARR-seq lymphoblastoid active region 9741 [Gene]
  • LOC130057511:ATAC-STARR-seq lymphoblastoid active region 9743 [Gene]
  • LOC130057512:ATAC-STARR-seq lymphoblastoid active region 9744 [Gene]
  • LOC130057513:ATAC-STARR-seq lymphoblastoid active region 9747 [Gene]
  • LOC130057517:ATAC-STARR-seq lymphoblastoid active region 9748 [Gene]
  • LOC130057519:ATAC-STARR-seq lymphoblastoid active region 9749 [Gene]
  • LOC130057520:ATAC-STARR-seq lymphoblastoid active region 9750 [Gene]
  • LOC130057521:ATAC-STARR-seq lymphoblastoid active region 9751 [Gene]
  • LOC130057522:ATAC-STARR-seq lymphoblastoid active region 9752 [Gene]
  • LOC130057523:ATAC-STARR-seq lymphoblastoid active region 9753 [Gene]
  • LOC130057524:ATAC-STARR-seq lymphoblastoid active region 9757 [Gene]
  • LOC130057525:ATAC-STARR-seq lymphoblastoid active region 9758 [Gene]
  • LOC130057526:ATAC-STARR-seq lymphoblastoid active region 9762 [Gene]
  • LOC130057527:ATAC-STARR-seq lymphoblastoid active region 9764 [Gene]
  • LOC130057528:ATAC-STARR-seq lymphoblastoid active region 9768 [Gene]
  • LOC130057529:ATAC-STARR-seq lymphoblastoid active region 9769 [Gene]
  • LOC130057530:ATAC-STARR-seq lymphoblastoid active region 9770 [Gene]
  • LOC130057531:ATAC-STARR-seq lymphoblastoid active region 9771 [Gene]
  • LOC130057532:ATAC-STARR-seq lymphoblastoid active region 9773 [Gene]
  • LOC130057533:ATAC-STARR-seq lymphoblastoid active region 9774 [Gene]
  • LOC130057534:ATAC-STARR-seq lymphoblastoid active region 9775 [Gene]
  • LOC130057538:ATAC-STARR-seq lymphoblastoid active region 9776 [Gene]
  • LOC130057539:ATAC-STARR-seq lymphoblastoid active region 9779 [Gene]
  • LOC130057540:ATAC-STARR-seq lymphoblastoid active region 9780 [Gene]
  • LOC130057542:ATAC-STARR-seq lymphoblastoid active region 9783 [Gene]
  • LOC130057545:ATAC-STARR-seq lymphoblastoid active region 9785 [Gene]
  • LOC130057546:ATAC-STARR-seq lymphoblastoid active region 9786 [Gene]
  • LOC130057547:ATAC-STARR-seq lymphoblastoid active region 9787 [Gene]
  • LOC130057548:ATAC-STARR-seq lymphoblastoid active region 9788 [Gene]
  • LOC130057549:ATAC-STARR-seq lymphoblastoid active region 9789 [Gene]
  • LOC130057550:ATAC-STARR-seq lymphoblastoid active region 9790 [Gene]
  • LOC130057551:ATAC-STARR-seq lymphoblastoid active region 9791 [Gene]
  • LOC130057552:ATAC-STARR-seq lymphoblastoid active region 9792 [Gene]
  • LOC130057555:ATAC-STARR-seq lymphoblastoid active region 9793 [Gene]
  • LOC130057556:ATAC-STARR-seq lymphoblastoid active region 9794 [Gene]
  • LOC130057557:ATAC-STARR-seq lymphoblastoid active region 9795 [Gene]
  • LOC130057558:ATAC-STARR-seq lymphoblastoid active region 9796 [Gene]
  • LOC130057559:ATAC-STARR-seq lymphoblastoid active region 9799 [Gene]
  • LOC130057560:ATAC-STARR-seq lymphoblastoid active region 9800 [Gene]
  • LOC130057561:ATAC-STARR-seq lymphoblastoid active region 9801 [Gene]
  • LOC130057562:ATAC-STARR-seq lymphoblastoid active region 9802 [Gene]
  • LOC130057563:ATAC-STARR-seq lymphoblastoid active region 9803 [Gene]
  • LOC130057564:ATAC-STARR-seq lymphoblastoid active region 9804 [Gene]
  • LOC130057565:ATAC-STARR-seq lymphoblastoid active region 9808 [Gene]
  • LOC130057566:ATAC-STARR-seq lymphoblastoid active region 9809 [Gene]
  • LOC130057567:ATAC-STARR-seq lymphoblastoid active region 9810 [Gene]
  • LOC130057568:ATAC-STARR-seq lymphoblastoid active region 9811 [Gene]
  • LOC130057569:ATAC-STARR-seq lymphoblastoid active region 9812 [Gene]
  • LOC130057570:ATAC-STARR-seq lymphoblastoid active region 9813 [Gene]
  • LOC130057571:ATAC-STARR-seq lymphoblastoid active region 9814 [Gene]
  • LOC130057572:ATAC-STARR-seq lymphoblastoid active region 9815 [Gene]
  • LOC130057574:ATAC-STARR-seq lymphoblastoid active region 9819 [Gene]
  • LOC130057575:ATAC-STARR-seq lymphoblastoid active region 9820 [Gene]
  • LOC130057576:ATAC-STARR-seq lymphoblastoid active region 9821 [Gene]
  • LOC130057577:ATAC-STARR-seq lymphoblastoid active region 9824 [Gene]
  • LOC130057578:ATAC-STARR-seq lymphoblastoid active region 9825 [Gene]
  • LOC130057580:ATAC-STARR-seq lymphoblastoid active region 9826 [Gene]
  • LOC130057581:ATAC-STARR-seq lymphoblastoid active region 9827 [Gene]
  • LOC130057582:ATAC-STARR-seq lymphoblastoid active region 9828 [Gene]
  • LOC130057583:ATAC-STARR-seq lymphoblastoid active region 9829 [Gene]
  • LOC130057584:ATAC-STARR-seq lymphoblastoid active region 9830 [Gene]
  • LOC130057585:ATAC-STARR-seq lymphoblastoid active region 9831 [Gene]
  • LOC130057586:ATAC-STARR-seq lymphoblastoid active region 9832 [Gene]
  • LOC130057587:ATAC-STARR-seq lymphoblastoid active region 9833 [Gene]
  • LOC130057588:ATAC-STARR-seq lymphoblastoid active region 9834 [Gene]
  • LOC130057589:ATAC-STARR-seq lymphoblastoid active region 9835 [Gene]
  • LOC130057590:ATAC-STARR-seq lymphoblastoid active region 9836 [Gene]
  • LOC130057591:ATAC-STARR-seq lymphoblastoid active region 9837 [Gene]
  • LOC130057592:ATAC-STARR-seq lymphoblastoid active region 9839 [Gene]
  • LOC130057593:ATAC-STARR-seq lymphoblastoid active region 9840 [Gene]
  • LOC130057484:ATAC-STARR-seq lymphoblastoid silent region 6626 [Gene]
  • LOC130057487:ATAC-STARR-seq lymphoblastoid silent region 6627 [Gene]
  • LOC130057488:ATAC-STARR-seq lymphoblastoid silent region 6628 [Gene]
  • LOC130057489:ATAC-STARR-seq lymphoblastoid silent region 6629 [Gene]
  • LOC130057490:ATAC-STARR-seq lymphoblastoid silent region 6630 [Gene]
  • LOC130057491:ATAC-STARR-seq lymphoblastoid silent region 6631 [Gene]
  • LOC130057492:ATAC-STARR-seq lymphoblastoid silent region 6632 [Gene]
  • LOC130057493:ATAC-STARR-seq lymphoblastoid silent region 6633 [Gene]
  • LOC130057494:ATAC-STARR-seq lymphoblastoid silent region 6634 [Gene]
  • LOC130057495:ATAC-STARR-seq lymphoblastoid silent region 6635 [Gene]
  • LOC130057496:ATAC-STARR-seq lymphoblastoid silent region 6636 [Gene]
  • LOC130057497:ATAC-STARR-seq lymphoblastoid silent region 6637 [Gene]
  • LOC130057498:ATAC-STARR-seq lymphoblastoid silent region 6638 [Gene]
  • LOC130057499:ATAC-STARR-seq lymphoblastoid silent region 6639 [Gene]
  • LOC130057500:ATAC-STARR-seq lymphoblastoid silent region 6640 [Gene]
  • LOC130057501:ATAC-STARR-seq lymphoblastoid silent region 6643 [Gene]
  • LOC130057506:ATAC-STARR-seq lymphoblastoid silent region 6644 [Gene]
  • LOC130057514:ATAC-STARR-seq lymphoblastoid silent region 6645 [Gene]
  • LOC130057515:ATAC-STARR-seq lymphoblastoid silent region 6646 [Gene]
  • LOC130057516:ATAC-STARR-seq lymphoblastoid silent region 6647 [Gene]
  • LOC130057518:ATAC-STARR-seq lymphoblastoid silent region 6648 [Gene]
  • LOC130057535:ATAC-STARR-seq lymphoblastoid silent region 6649 [Gene]
  • LOC130057536:ATAC-STARR-seq lymphoblastoid silent region 6650 [Gene]
  • LOC130057537:ATAC-STARR-seq lymphoblastoid silent region 6651 [Gene]
  • LOC130057541:ATAC-STARR-seq lymphoblastoid silent region 6652 [Gene]
  • LOC130057543:ATAC-STARR-seq lymphoblastoid silent region 6653 [Gene]
  • LOC130057544:ATAC-STARR-seq lymphoblastoid silent region 6654 [Gene]
  • LOC130057553:ATAC-STARR-seq lymphoblastoid silent region 6657 [Gene]
  • LOC130057554:ATAC-STARR-seq lymphoblastoid silent region 6658 [Gene]
  • LOC130057573:ATAC-STARR-seq lymphoblastoid silent region 6661 [Gene]
  • LOC130057579:ATAC-STARR-seq lymphoblastoid silent region 6663 [Gene]
  • LOC126862181:BRD4-independent group 4 enhancer GRCh37_chr15:75090696-75091895 [Gene]
  • BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]
  • CSK:C-terminal Src kinase [Gene - OMIM - HGNC]
  • CD276:CD276 molecule [Gene - OMIM - HGNC]
  • CLK3:CDC like kinase 3 [Gene - OMIM - HGNC]
  • LOC126862173:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:73635762-73636961 [Gene]
  • LOC126862175:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74249081-74250280 [Gene]
  • LOC126862176:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74280304-74281503 [Gene]
  • LOC126862177:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74476518-74477717 [Gene]
  • LOC126862178:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74524367-74525566 [Gene]
  • LOC126862182:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:75335422-75336621 [Gene]
  • LOC116268471:CRISPRi-validated cis-regulatory element chr15.2230 [Gene]
  • LOC108964933:CYP11A1 promoter region [Gene]
  • LOC110467515:CYP1A1 5' regulatory region [Gene]
  • LOC110467516:CYP1A2 5' regulatory region [Gene]
  • HIGD2B:HIG1 hypoxia inducible domain family member 2B [Gene - HGNC]
  • INSYN1-AS1:INSYN1 antisense RNA 1 [Gene - HGNC]
  • LOXL1-AS1:LOXL1 antisense RNA 1 [Gene - OMIM - HGNC]
  • LOC126862171:MED14-independent group 3 enhancer GRCh37_chr15:73457693-73458892 [Gene]
  • LOC126862172:MED14-independent group 3 enhancer GRCh37_chr15:73517560-73518759 [Gene]
  • LOC126862174:MED14-independent group 3 enhancer GRCh37_chr15:74066905-74068104 [Gene]
  • LOC129390718:MPRA-validated peak2381 silencer [Gene]
  • LOC129390719:MPRA-validated peak2382 silencer [Gene]
  • LOC129390720:MPRA-validated peak2386 silencer [Gene]
  • LOC129390721:MPRA-validated peak2387 silencer [Gene]
  • LOC129390722:MPRA-validated peak2388 silencer [Gene]
  • NPTN-IT1:NPTN intronic transcript 1 [Gene - OMIM - HGNC]
  • LOC132090330:Neanderthal introgressed variant-containing enhancer experimental_40888 [Gene]
  • LOC132090331:Neanderthal introgressed variant-containing enhancer experimental_40898 [Gene]
  • LOC126862179:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:74676645-74677844 [Gene]
  • LOC126862180:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:74688843-74690042 [Gene]
  • PML:PML nuclear body scaffold [Gene - OMIM - HGNC]
  • REC114:REC114 meiotic recombination protein [Gene - OMIM - HGNC]
  • LOC112272616:Sharpr-MPRA regulatory region 10472 [Gene]
  • LOC121530593:Sharpr-MPRA regulatory region 11341 [Gene]
  • LOC121530591:Sharpr-MPRA regulatory region 13651 [Gene]
  • LOC112272615:Sharpr-MPRA regulatory region 315 [Gene]
  • LOC125110357:Sharpr-MPRA regulatory region 342 [Gene]
  • LOC125138289:Sharpr-MPRA regulatory region 4992 [Gene]
  • LOC121847957:Sharpr-MPRA regulatory region 521 [Gene]
  • LOC112272614:Sharpr-MPRA regulatory region 8861 [Gene]
  • LOC121530592:Sharpr-MPRA regulatory region 9638 [Gene]
  • TBC1D21:TBC1 domain family member 21 [Gene - OMIM - HGNC]
  • UBL7-DT:UBL7 divergent transcript [Gene - HGNC]
  • LOC110121383:VISTA enhancer hs1510 [Gene]
  • LOC110121492:VISTA enhancer hs2161 [Gene]
  • LOC120285840:VISTA enhancer hs2614 [Gene]
  • C15orf39:chromosome 15 open reading frame 39 [Gene - HGNC]
  • CCDC33:coiled-coil domain containing 33 [Gene - OMIM - HGNC]
  • CPLX3:complexin 3 [Gene - OMIM - HGNC]
  • CYP1A1:cytochrome P450 family 1 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP1A2:cytochrome P450 family 1 subfamily A member 2 [Gene - OMIM - HGNC]
  • CYP11A1:cytochrome P450 family 11 subfamily A member 1 [Gene - OMIM - HGNC]
  • COX5A:cytochrome c oxidase subunit 5A [Gene - OMIM - HGNC]
  • LOC110467517:dioxin-responsive -38 kb CYP1A2 enhancer [Gene]
  • EDC3:enhancer of mRNA decapping 3 [Gene - OMIM - HGNC]
  • FAM219B:family with sequence similarity 219 member B [Gene - HGNC]
  • GOLGA6A:golgin A6 family member A [Gene - OMIM - HGNC]
  • HCN4:hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Gene - OMIM - HGNC]
  • ISLR2:immunoglobulin superfamily containing leucine rich repeat 2 [Gene - OMIM - HGNC]
  • ISLR:immunoglobulin superfamily containing leucine rich repeat [Gene - OMIM - HGNC]
  • INSYN1:inhibitory synaptic factor 1 [Gene - OMIM - HGNC]
  • LMAN1L:lectin, mannose binding 1 like [Gene - OMIM - HGNC]
  • LINC02255:long intergenic non-protein coding RNA 2255 [Gene - HGNC]
  • LOXL1:lysyl oxidase like 1 [Gene - OMIM - HGNC]
  • MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]
  • MIR12135:microRNA 12135 [Gene - HGNC]
  • MIR4513:microRNA 4513 [Gene - HGNC]
  • MIR6881:microRNA 6881 [Gene - HGNC]
  • MIR6882:microRNA 6882 [Gene - HGNC]
  • NEO1:neogenin 1 [Gene - OMIM - HGNC]
  • NPTN:neuroplastin [Gene - OMIM - HGNC]
  • PPCDC:phosphopantothenoylcysteine decarboxylase [Gene - OMIM - HGNC]
  • RPP25:ribonuclease P and MRP subunit p25 [Gene - OMIM - HGNC]
  • SCAMP2:secretory carrier membrane protein 2 [Gene - OMIM - HGNC]
  • SCAMP5:secretory carrier membrane protein 5 [Gene - OMIM - HGNC]
  • SEMA7A:semaphorin 7A (John Milton Hagen blood group) [Gene - OMIM - HGNC]
  • STRA6:signaling receptor and transporter of retinol STRA6 [Gene - OMIM - HGNC]
  • STOML1:stomatin like 1 [Gene - OMIM - HGNC]
  • UBL7:ubiquitin like 7 [Gene - OMIM - HGNC]
  • ULK3:unc-51 like kinase 3 [Gene - OMIM - HGNC]
  • LOC105370890:uncharacterized LOC105370890 [Gene]
  • LOC283731:uncharacterized LOC283731 [Gene]
Variant type:
copy number loss
Cytogenetic location:
15q24.1-24.2
Genomic location:
Preferred name:
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1
HGVS:
  • NC_000015.10:g.(?_72671629)_(75199803_?)del
  • NC_000015.8:g.(?_70751023)_(73279197_?)del
  • NC_000015.9:g.(?_72963970)_(75492144_?)del
Links:
dbVar: nssv1415161; dbVar: nsv817274
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
SCV000177567ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Apr 8, 2011) 		not providedclinical 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

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, SCV000177567.4

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

Last Updated: Oct 14, 2023