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GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)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:
RCV000054191.6

Allele description [Variation Report for GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1]

GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1

Genes:
  • HTR5A:5-hydroxytryptamine receptor 5A [Gene - OMIM - HGNC]
  • LOC129999690:ATAC-STARR-seq lymphoblastoid active region 26886 [Gene]
  • LOC129999691:ATAC-STARR-seq lymphoblastoid active region 26887 [Gene]
  • LOC129999692:ATAC-STARR-seq lymphoblastoid active region 26888 [Gene]
  • LOC129999693:ATAC-STARR-seq lymphoblastoid active region 26889 [Gene]
  • LOC129999698:ATAC-STARR-seq lymphoblastoid active region 26890 [Gene]
  • LOC129999700:ATAC-STARR-seq lymphoblastoid active region 26891 [Gene]
  • LOC129999701:ATAC-STARR-seq lymphoblastoid active region 26892 [Gene]
  • LOC129999702:ATAC-STARR-seq lymphoblastoid active region 26893 [Gene]
  • LOC129999703:ATAC-STARR-seq lymphoblastoid active region 26894 [Gene]
  • LOC129999704:ATAC-STARR-seq lymphoblastoid active region 26895 [Gene]
  • LOC129999706:ATAC-STARR-seq lymphoblastoid active region 26896 [Gene]
  • LOC129999711:ATAC-STARR-seq lymphoblastoid active region 26898 [Gene]
  • LOC129999712:ATAC-STARR-seq lymphoblastoid active region 26899 [Gene]
  • LOC129999713:ATAC-STARR-seq lymphoblastoid active region 26901 [Gene]
  • LOC129999714:ATAC-STARR-seq lymphoblastoid active region 26902 [Gene]
  • LOC129999715:ATAC-STARR-seq lymphoblastoid active region 26903 [Gene]
  • LOC129999716:ATAC-STARR-seq lymphoblastoid active region 26904 [Gene]
  • LOC129999717:ATAC-STARR-seq lymphoblastoid active region 26905 [Gene]
  • LOC129999718:ATAC-STARR-seq lymphoblastoid active region 26906 [Gene]
  • LOC129999719:ATAC-STARR-seq lymphoblastoid active region 26907 [Gene]
  • LOC129999720:ATAC-STARR-seq lymphoblastoid active region 26908 [Gene]
  • LOC129999721:ATAC-STARR-seq lymphoblastoid active region 26909 [Gene]
  • LOC129999722:ATAC-STARR-seq lymphoblastoid active region 26910 [Gene]
  • LOC129999723:ATAC-STARR-seq lymphoblastoid active region 26911 [Gene]
  • LOC129999724:ATAC-STARR-seq lymphoblastoid active region 26912 [Gene]
  • LOC129999725:ATAC-STARR-seq lymphoblastoid active region 26913 [Gene]
  • LOC129999728:ATAC-STARR-seq lymphoblastoid active region 26914 [Gene]
  • LOC129999729:ATAC-STARR-seq lymphoblastoid active region 26915 [Gene]
  • LOC129999730:ATAC-STARR-seq lymphoblastoid active region 26916 [Gene]
  • LOC129999731:ATAC-STARR-seq lymphoblastoid active region 26917 [Gene]
  • LOC129999738:ATAC-STARR-seq lymphoblastoid active region 26918 [Gene]
  • LOC129999739:ATAC-STARR-seq lymphoblastoid active region 26919 [Gene]
  • LOC129999740:ATAC-STARR-seq lymphoblastoid active region 26920 [Gene]
  • LOC129999741:ATAC-STARR-seq lymphoblastoid active region 26921 [Gene]
  • LOC129999742:ATAC-STARR-seq lymphoblastoid active region 26922 [Gene]
  • LOC129999746:ATAC-STARR-seq lymphoblastoid active region 26923 [Gene]
  • LOC129999747:ATAC-STARR-seq lymphoblastoid active region 26924 [Gene]
  • LOC129999748:ATAC-STARR-seq lymphoblastoid active region 26925 [Gene]
  • LOC129999749:ATAC-STARR-seq lymphoblastoid active region 26926 [Gene]
  • LOC129999750:ATAC-STARR-seq lymphoblastoid active region 26927 [Gene]
  • LOC129999751:ATAC-STARR-seq lymphoblastoid active region 26928 [Gene]
  • LOC129999752:ATAC-STARR-seq lymphoblastoid active region 26929 [Gene]
  • LOC129999753:ATAC-STARR-seq lymphoblastoid active region 26930 [Gene]
  • LOC129999757:ATAC-STARR-seq lymphoblastoid active region 26931 [Gene]
  • LOC129999758:ATAC-STARR-seq lymphoblastoid active region 26932 [Gene]
  • LOC129999764:ATAC-STARR-seq lymphoblastoid active region 26933 [Gene]
  • LOC129999766:ATAC-STARR-seq lymphoblastoid active region 26936 [Gene]
  • LOC129999767:ATAC-STARR-seq lymphoblastoid active region 26937 [Gene]
  • LOC129999694:ATAC-STARR-seq lymphoblastoid silent region 18839 [Gene]
  • LOC129999695:ATAC-STARR-seq lymphoblastoid silent region 18840 [Gene]
  • LOC129999696:ATAC-STARR-seq lymphoblastoid silent region 18841 [Gene]
  • LOC129999697:ATAC-STARR-seq lymphoblastoid silent region 18842 [Gene]
  • LOC129999699:ATAC-STARR-seq lymphoblastoid silent region 18843 [Gene]
  • LOC129999705:ATAC-STARR-seq lymphoblastoid silent region 18844 [Gene]
  • LOC129999707:ATAC-STARR-seq lymphoblastoid silent region 18845 [Gene]
  • LOC129999708:ATAC-STARR-seq lymphoblastoid silent region 18846 [Gene]
  • LOC129999709:ATAC-STARR-seq lymphoblastoid silent region 18847 [Gene]
  • LOC129999710:ATAC-STARR-seq lymphoblastoid silent region 18848 [Gene]
  • LOC129999726:ATAC-STARR-seq lymphoblastoid silent region 18852 [Gene]
  • LOC129999727:ATAC-STARR-seq lymphoblastoid silent region 18853 [Gene]
  • LOC129999732:ATAC-STARR-seq lymphoblastoid silent region 18854 [Gene]
  • LOC129999733:ATAC-STARR-seq lymphoblastoid silent region 18855 [Gene]
  • LOC129999734:ATAC-STARR-seq lymphoblastoid silent region 18856 [Gene]
  • LOC129999735:ATAC-STARR-seq lymphoblastoid silent region 18857 [Gene]
  • LOC129999736:ATAC-STARR-seq lymphoblastoid silent region 18858 [Gene]
  • LOC129999737:ATAC-STARR-seq lymphoblastoid silent region 18859 [Gene]
  • LOC129999743:ATAC-STARR-seq lymphoblastoid silent region 18860 [Gene]
  • LOC129999744:ATAC-STARR-seq lymphoblastoid silent region 18861 [Gene]
  • LOC129999745:ATAC-STARR-seq lymphoblastoid silent region 18862 [Gene]
  • LOC129999754:ATAC-STARR-seq lymphoblastoid silent region 18866 [Gene]
  • LOC129999755:ATAC-STARR-seq lymphoblastoid silent region 18867 [Gene]
  • LOC129999756:ATAC-STARR-seq lymphoblastoid silent region 18868 [Gene]
  • LOC129999759:ATAC-STARR-seq lymphoblastoid silent region 18869 [Gene]
  • LOC129999760:ATAC-STARR-seq lymphoblastoid silent region 18870 [Gene]
  • LOC129999761:ATAC-STARR-seq lymphoblastoid silent region 18871 [Gene]
  • LOC129999762:ATAC-STARR-seq lymphoblastoid silent region 18872 [Gene]
  • LOC129999763:ATAC-STARR-seq lymphoblastoid silent region 18873 [Gene]
  • LOC129999765:ATAC-STARR-seq lymphoblastoid silent region 18874 [Gene]
  • LOC129999768:ATAC-STARR-seq lymphoblastoid silent region 18875 [Gene]
  • BLACE:B cell acute lymphoblastic leukemia expressed [Gene - OMIM - HGNC]
  • LOC126860232:BRD4-independent group 4 enhancer GRCh37_chr7:152900290-152901489 [Gene]
  • LOC126860234:BRD4-independent group 4 enhancer GRCh37_chr7:153129747-153130946 [Gene]
  • LOC126860236:BRD4-independent group 4 enhancer GRCh37_chr7:153555187-153556386 [Gene]
  • LOC126860237:BRD4-independent group 4 enhancer GRCh37_chr7:154451859-154453058 [Gene]
  • LOC126860238:BRD4-independent group 4 enhancer GRCh37_chr7:154455057-154456256 [Gene]
  • LOC126860239:BRD4-independent group 4 enhancer GRCh37_chr7:154737734-154738933 [Gene]
  • LOC126860240:BRD4-independent group 4 enhancer GRCh37_chr7:154989644-154990843 [Gene]
  • LOC126860244:BRD4-independent group 4 enhancer GRCh37_chr7:155632935-155634134 [Gene]
  • LOC126860245:BRD4-independent group 4 enhancer GRCh37_chr7:155661375-155662574 [Gene]
  • LOC126860249:BRD4-independent group 4 enhancer GRCh37_chr7:155855824-155857023 [Gene]
  • LOC126860258:BRD4-independent group 4 enhancer GRCh37_chr7:158134599-158135798 [Gene]
  • LOC126860261:BRD4-independent group 4 enhancer GRCh37_chr7:158526538-158527737 [Gene]
  • LOC126860262:BRD4-independent group 4 enhancer GRCh37_chr7:158702850-158704049 [Gene]
  • LOC126860263:BRD4-independent group 4 enhancer GRCh37_chr7:158850668-158851867 [Gene]
  • LOC126860265:BRD4-independent group 4 enhancer GRCh37_chr7:158961997-158963196 [Gene]
  • LOC126860230:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:152744087-152745286 [Gene]
  • LOC126860243:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:155567610-155568809 [Gene]
  • LOC126860246:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:155678617-155679816 [Gene]
  • LOC126860250:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:155857309-155858508 [Gene]
  • LOC126860255:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:157387093-157388292 [Gene]
  • LOC116186918:CRISPRi-validated cis-regulatory element chr7.5881 [Gene]
  • LOC110599567:D7S22 minisatellite repeat instability region [Gene]
  • DNAJB6:DnaJ heat shock protein family (Hsp40) member B6 [Gene - OMIM - HGNC]
  • EN2-DT:EN2 divergent transcript [Gene - HGNC]
  • HTR5A-AS1:HTR5A antisense RNA 1 [Gene - HGNC]
  • INSIG1-DT:INSIG1 divergent transcript [Gene - HGNC]
  • LOC108254663:LINC00689 intron CAGE-defined high expression enhancer [Gene]
  • LOC126860231:MED14-independent group 3 enhancer GRCh37_chr7:152887976-152889175 [Gene]
  • LOC126860233:MED14-independent group 3 enhancer GRCh37_chr7:153109801-153111000 [Gene]
  • LOC126860241:MED14-independent group 3 enhancer GRCh37_chr7:155274926-155276125 [Gene]
  • LOC126860242:MED14-independent group 3 enhancer GRCh37_chr7:155534138-155535337 [Gene]
  • LOC126860251:MED14-independent group 3 enhancer GRCh37_chr7:156449836-156451035 [Gene]
  • LOC126860252:MED14-independent group 3 enhancer GRCh37_chr7:156707384-156708583 [Gene]
  • LOC126860260:MED14-independent group 3 enhancer GRCh37_chr7:158456637-158457836 [Gene]
  • MNX1-AS1:MNX1 antisense RNA 1 (head to head) [Gene - HGNC]
  • MNX1-AS2:MNX1 antisense RNA 2 [Gene - HGNC]
  • LOC129389939:MPRA-validated peak6860 silencer [Gene]
  • LOC129389940:MPRA-validated peak6863 silencer [Gene]
  • LOC129389941:MPRA-validated peak6864 silencer [Gene]
  • LOC129389942:MPRA-validated peak6866 silencer [Gene]
  • LOC129389943:MPRA-validated peak6868 silencer [Gene]
  • LOC129389944:MPRA-validated peak6870 silencer [Gene]
  • LOC129389945:MPRA-validated peak6872 silencer [Gene]
  • LOC129389946:MPRA-validated peak6875 silencer [Gene]
  • LOC129389947:MPRA-validated peak6876 silencer [Gene]
  • LOC129389948:MPRA-validated peak6878 silencer [Gene]
  • LOC129389949:MPRA-validated peak6880 silencer [Gene]
  • LOC129389950:MPRA-validated peak6883 silencer [Gene]
  • LOC132089518:Neanderthal introgressed variant-containing enhancer experimental_97964 [Gene]
  • LOC132089519:Neanderthal introgressed variant-containing enhancer experimental_97987 [Gene]
  • LOC132089520:Neanderthal introgressed variant-containing enhancer experimental_98034 [Gene]
  • LOC126860235:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:153154481-153155680 [Gene]
  • LOC126860247:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:155743904-155745103 [Gene]
  • LOC126860248:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:155754590-155755789 [Gene]
  • LOC126860253:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:157355168-157356367 [Gene]
  • LOC126860254:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:157357033-157358232 [Gene]
  • LOC126860256:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:157637302-157638501 [Gene]
  • LOC126860257:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:157725255-157726454 [Gene]
  • LOC126860259:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:158166900-158168099 [Gene]
  • LOC126860264:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:158939357-158940556 [Gene]
  • PAXIP1:PAX interacting protein 1 [Gene - OMIM - HGNC]
  • PAXIP1-AS2:PAXIP1 antisense RNA 2 [Gene - HGNC]
  • PAXIP1-DT:PAXIP1 divergent transcript [Gene - HGNC]
  • PTPRN2-AS1:PTPRN2 antisense RNA 1 [Gene - HGNC]
  • RBM33-DT:RBM33 divergent transcript [Gene - HGNC]
  • RBM33:RNA binding motif protein 33 [Gene - OMIM - HGNC]
  • RNF32-AS1:RNF32 antisense RNA 1 [Gene - HGNC]
  • RNF32-DT:RNF32 divergent transcript [Gene - OMIM - HGNC]
  • SBE2:SHH brain enhancer 2 [Gene]
  • LOC106049962:SHH silencer LOC106049962 [Gene]
  • LOC123956278:Sharpr-MPRA regulatory region 10004 [Gene]
  • LOC121740707:Sharpr-MPRA regulatory region 10119 [Gene]
  • LOC121201619:Sharpr-MPRA regulatory region 10383 [Gene]
  • LOC114004407:Sharpr-MPRA regulatory region 11620 [Gene]
  • LOC113687207:Sharpr-MPRA regulatory region 13578 [Gene]
  • LOC123956275:Sharpr-MPRA regulatory region 14434 [Gene]
  • LOC113687206:Sharpr-MPRA regulatory region 3392 [Gene]
  • LOC123956279:Sharpr-MPRA regulatory region 3765 [Gene]
  • LOC123956276:Sharpr-MPRA regulatory region 4112 [Gene]
  • LOC121201620:Sharpr-MPRA regulatory region 4962 [Gene]
  • LOC123956280:Sharpr-MPRA regulatory region 5233 [Gene]
  • LOC113687208:Sharpr-MPRA regulatory region 5343 [Gene]
  • LOC123956282:Sharpr-MPRA regulatory region 5385 [Gene]
  • LOC123956281:Sharpr-MPRA regulatory region 8406 [Gene]
  • LOC123956284:Sharpr-MPRA regulatory region 8416 [Gene]
  • LOC123956285:Sharpr-MPRA regulatory region 8832 [Gene]
  • LOC123956277:Sharpr-MPRA regulatory region 9102 [Gene]
  • LOC121740705:Sharpr-MPRA regulatory region 9204 [Gene]
  • LOC123956283:Sharpr-MPRA regulatory region 9311 [Gene]
  • LOC121740706:Sharpr-MPRA regulatory region 9615 [Gene]
  • LOC121201621:Sharpr-MPRA regulatory region 9999 [Gene]
  • LOC110121044:VISTA enhancer hs1268 [Gene]
  • LOC110121094:VISTA enhancer hs1418 [Gene]
  • LOC110121203:VISTA enhancer hs1753 [Gene]
  • ZRS:ZPA regulatory sequence [Gene - OMIM]
  • LOC114255744:ZRS shadow enhancer [Gene]
  • CNPY1:canopy FGF signaling regulator 1 [Gene - OMIM - HGNC]
  • DPP6:dipeptidyl peptidase like 6 [Gene - OMIM - HGNC]
  • DYNC2I1:dynein 2 intermediate chain 1 [Gene - OMIM - HGNC]
  • EN2:engrailed homeobox 2 [Gene - OMIM - HGNC]
  • ESYT2:extended synaptotagmin 2 [Gene - OMIM - HGNC]
  • INSIG1:insulin induced gene 1 [Gene - OMIM - HGNC]
  • LMBR1:limb development membrane protein 1 [Gene - OMIM - HGNC]
  • LINC01022:long intergenic non-protein coding RNA 1022 [Gene - HGNC]
  • LINC01287:long intergenic non-protein coding RNA 1287 [Gene - HGNC]
  • LINC00244:long intergenic non-protein coding RNA 244 [Gene - HGNC]
  • LINC03010:long intergenic non-protein coding RNA 3010 [Gene - HGNC]
  • LINC00689:long intergenic non-protein coding RNA 689 [Gene - HGNC]
  • MIR153-2:microRNA 153-2 [Gene - HGNC]
  • MIR5707:microRNA 5707 [Gene - HGNC]
  • MIR595:microRNA 595 [Gene - HGNC]
  • MNX1:motor neuron and pancreas homeobox 1 [Gene - OMIM - HGNC]
  • NCAPG2:non-SMC condensin II complex subunit G2 [Gene - OMIM - HGNC]
  • NOM1:nucleolar protein with MIF4G domain 1 [Gene - OMIM - HGNC]
  • PTPRN2:protein tyrosine phosphatase receptor type N2 [Gene - OMIM - HGNC]
  • RNF32:ring finger protein 32 [Gene - OMIM - HGNC]
  • SHH:sonic hedgehog signaling molecule [Gene - OMIM - HGNC]
  • UBE3C:ubiquitin protein ligase E3C [Gene - OMIM - HGNC]
  • LOC101927914:uncharacterized LOC101927914 [Gene]
  • LOC101929998:uncharacterized LOC101929998 [Gene]
  • LOC105375589:uncharacterized LOC105375589 [Gene]
  • LOC105375610:uncharacterized LOC105375610 [Gene]
  • LOC285889:uncharacterized LOC285889 [Gene]
  • LOC389602:uncharacterized LOC389602 [Gene]
  • VIPR2:vasoactive intestinal peptide receptor 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q36.2-36.3
Genomic location:
Preferred name:
GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1
HGVS:
  • NC_000007.14:g.(?_152918472)_(159307523_?)del
  • NC_000007.12:g.(?_152246490)_(158792973_?)del
  • NC_000007.13:g.(?_152615557)_(159100212_?)del
Links:
dbVar: nssv578230; dbVar: nsv532860
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
SCV000081555GeneDx
criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000081555.5

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

Last Updated: Sep 1, 2024