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GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)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:
RCV000054022.5

Allele description [Variation Report for GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1]

GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1

Genes:
  • LOC129933784:ATAC-STARR-seq lymphoblastoid active region 15795 [Gene]
  • LOC129933785:ATAC-STARR-seq lymphoblastoid active region 15796 [Gene]
  • LOC129933786:ATAC-STARR-seq lymphoblastoid active region 15797 [Gene]
  • LOC129933788:ATAC-STARR-seq lymphoblastoid active region 15798 [Gene]
  • LOC129933789:ATAC-STARR-seq lymphoblastoid active region 15799 [Gene]
  • LOC129933790:ATAC-STARR-seq lymphoblastoid active region 15800 [Gene]
  • LOC129933791:ATAC-STARR-seq lymphoblastoid active region 15801 [Gene]
  • LOC129933792:ATAC-STARR-seq lymphoblastoid active region 15802 [Gene]
  • LOC129933794:ATAC-STARR-seq lymphoblastoid active region 15803 [Gene]
  • LOC129933795:ATAC-STARR-seq lymphoblastoid active region 15804 [Gene]
  • LOC129933796:ATAC-STARR-seq lymphoblastoid active region 15805 [Gene]
  • LOC129933797:ATAC-STARR-seq lymphoblastoid active region 15806 [Gene]
  • LOC129933798:ATAC-STARR-seq lymphoblastoid active region 15807 [Gene]
  • LOC129933799:ATAC-STARR-seq lymphoblastoid active region 15808 [Gene]
  • LOC129933801:ATAC-STARR-seq lymphoblastoid active region 15809 [Gene]
  • LOC129933802:ATAC-STARR-seq lymphoblastoid active region 15810 [Gene]
  • LOC129933803:ATAC-STARR-seq lymphoblastoid active region 15811 [Gene]
  • LOC129933804:ATAC-STARR-seq lymphoblastoid active region 15812 [Gene]
  • LOC129933810:ATAC-STARR-seq lymphoblastoid active region 15814 [Gene]
  • LOC129933812:ATAC-STARR-seq lymphoblastoid active region 15815 [Gene]
  • LOC129933815:ATAC-STARR-seq lymphoblastoid active region 15816 [Gene]
  • LOC129933816:ATAC-STARR-seq lymphoblastoid active region 15817 [Gene]
  • LOC129933817:ATAC-STARR-seq lymphoblastoid active region 15818 [Gene]
  • LOC129933819:ATAC-STARR-seq lymphoblastoid active region 15819 [Gene]
  • LOC129933820:ATAC-STARR-seq lymphoblastoid active region 15820 [Gene]
  • LOC129933821:ATAC-STARR-seq lymphoblastoid active region 15821 [Gene]
  • LOC129933822:ATAC-STARR-seq lymphoblastoid active region 15822 [Gene]
  • LOC129933823:ATAC-STARR-seq lymphoblastoid active region 15823 [Gene]
  • LOC129933824:ATAC-STARR-seq lymphoblastoid active region 15824 [Gene]
  • LOC129933825:ATAC-STARR-seq lymphoblastoid active region 15825 [Gene]
  • LOC129933826:ATAC-STARR-seq lymphoblastoid active region 15826 [Gene]
  • LOC129933827:ATAC-STARR-seq lymphoblastoid active region 15827 [Gene]
  • LOC129933828:ATAC-STARR-seq lymphoblastoid active region 15828 [Gene]
  • LOC129933831:ATAC-STARR-seq lymphoblastoid active region 15830 [Gene]
  • LOC129933835:ATAC-STARR-seq lymphoblastoid active region 15831 [Gene]
  • LOC129933836:ATAC-STARR-seq lymphoblastoid active region 15832 [Gene]
  • LOC129933837:ATAC-STARR-seq lymphoblastoid active region 15833 [Gene]
  • LOC129933838:ATAC-STARR-seq lymphoblastoid active region 15834 [Gene]
  • LOC129933839:ATAC-STARR-seq lymphoblastoid active region 15835 [Gene]
  • LOC129933841:ATAC-STARR-seq lymphoblastoid active region 15836 [Gene]
  • LOC129933842:ATAC-STARR-seq lymphoblastoid active region 15838 [Gene]
  • LOC129933843:ATAC-STARR-seq lymphoblastoid active region 15839 [Gene]
  • LOC129933844:ATAC-STARR-seq lymphoblastoid active region 15840 [Gene]
  • LOC129933845:ATAC-STARR-seq lymphoblastoid active region 15841 [Gene]
  • LOC129933847:ATAC-STARR-seq lymphoblastoid active region 15843 [Gene]
  • LOC129933848:ATAC-STARR-seq lymphoblastoid active region 15844 [Gene]
  • LOC129933849:ATAC-STARR-seq lymphoblastoid active region 15845 [Gene]
  • LOC129933850:ATAC-STARR-seq lymphoblastoid active region 15846 [Gene]
  • LOC129933851:ATAC-STARR-seq lymphoblastoid active region 15848 [Gene]
  • LOC129933852:ATAC-STARR-seq lymphoblastoid active region 15849 [Gene]
  • LOC129933855:ATAC-STARR-seq lymphoblastoid active region 15850 [Gene]
  • LOC129933857:ATAC-STARR-seq lymphoblastoid active region 15851 [Gene]
  • LOC129933858:ATAC-STARR-seq lymphoblastoid active region 15852 [Gene]
  • LOC129933859:ATAC-STARR-seq lymphoblastoid active region 15855 [Gene]
  • LOC129933860:ATAC-STARR-seq lymphoblastoid active region 15856 [Gene]
  • LOC129933861:ATAC-STARR-seq lymphoblastoid active region 15857 [Gene]
  • LOC129933862:ATAC-STARR-seq lymphoblastoid active region 15858 [Gene]
  • LOC129933863:ATAC-STARR-seq lymphoblastoid active region 15859 [Gene]
  • LOC129933864:ATAC-STARR-seq lymphoblastoid active region 15860 [Gene]
  • LOC129933865:ATAC-STARR-seq lymphoblastoid active region 15861 [Gene]
  • LOC129933866:ATAC-STARR-seq lymphoblastoid active region 15862 [Gene]
  • LOC129933867:ATAC-STARR-seq lymphoblastoid active region 15863 [Gene]
  • LOC129933868:ATAC-STARR-seq lymphoblastoid active region 15864 [Gene]
  • LOC129933869:ATAC-STARR-seq lymphoblastoid active region 15865 [Gene]
  • LOC129933870:ATAC-STARR-seq lymphoblastoid active region 15866 [Gene]
  • LOC129933874:ATAC-STARR-seq lymphoblastoid active region 15867 [Gene]
  • LOC129933875:ATAC-STARR-seq lymphoblastoid active region 15868 [Gene]
  • LOC129933876:ATAC-STARR-seq lymphoblastoid active region 15869 [Gene]
  • LOC129933877:ATAC-STARR-seq lymphoblastoid active region 15870 [Gene]
  • LOC129933880:ATAC-STARR-seq lymphoblastoid active region 15871 [Gene]
  • LOC129933881:ATAC-STARR-seq lymphoblastoid active region 15872 [Gene]
  • LOC129933882:ATAC-STARR-seq lymphoblastoid active region 15873 [Gene]
  • LOC129933884:ATAC-STARR-seq lymphoblastoid active region 15875 [Gene]
  • LOC129933885:ATAC-STARR-seq lymphoblastoid active region 15876 [Gene]
  • LOC129933886:ATAC-STARR-seq lymphoblastoid active region 15877 [Gene]
  • LOC129933887:ATAC-STARR-seq lymphoblastoid active region 15878 [Gene]
  • LOC129933889:ATAC-STARR-seq lymphoblastoid active region 15879 [Gene]
  • LOC129933890:ATAC-STARR-seq lymphoblastoid active region 15880 [Gene]
  • LOC129933894:ATAC-STARR-seq lymphoblastoid active region 15881 [Gene]
  • LOC129933895:ATAC-STARR-seq lymphoblastoid active region 15882 [Gene]
  • LOC129933901:ATAC-STARR-seq lymphoblastoid active region 15883 [Gene]
  • LOC129933787:ATAC-STARR-seq lymphoblastoid silent region 11508 [Gene]
  • LOC129933793:ATAC-STARR-seq lymphoblastoid silent region 11509 [Gene]
  • LOC129933800:ATAC-STARR-seq lymphoblastoid silent region 11510 [Gene]
  • LOC129933805:ATAC-STARR-seq lymphoblastoid silent region 11511 [Gene]
  • LOC129933806:ATAC-STARR-seq lymphoblastoid silent region 11513 [Gene]
  • LOC129933807:ATAC-STARR-seq lymphoblastoid silent region 11514 [Gene]
  • LOC129933808:ATAC-STARR-seq lymphoblastoid silent region 11515 [Gene]
  • LOC129933809:ATAC-STARR-seq lymphoblastoid silent region 11516 [Gene]
  • LOC129933811:ATAC-STARR-seq lymphoblastoid silent region 11517 [Gene]
  • LOC129933813:ATAC-STARR-seq lymphoblastoid silent region 11518 [Gene]
  • LOC129933814:ATAC-STARR-seq lymphoblastoid silent region 11519 [Gene]
  • LOC129933818:ATAC-STARR-seq lymphoblastoid silent region 11520 [Gene]
  • LOC129933829:ATAC-STARR-seq lymphoblastoid silent region 11525 [Gene]
  • LOC129933830:ATAC-STARR-seq lymphoblastoid silent region 11526 [Gene]
  • LOC129933832:ATAC-STARR-seq lymphoblastoid silent region 11527 [Gene]
  • LOC129933833:ATAC-STARR-seq lymphoblastoid silent region 11528 [Gene]
  • LOC129933834:ATAC-STARR-seq lymphoblastoid silent region 11529 [Gene]
  • LOC129933840:ATAC-STARR-seq lymphoblastoid silent region 11531 [Gene]
  • LOC129933846:ATAC-STARR-seq lymphoblastoid silent region 11532 [Gene]
  • LOC129933853:ATAC-STARR-seq lymphoblastoid silent region 11533 [Gene]
  • LOC129933854:ATAC-STARR-seq lymphoblastoid silent region 11535 [Gene]
  • LOC129933856:ATAC-STARR-seq lymphoblastoid silent region 11536 [Gene]
  • LOC129933871:ATAC-STARR-seq lymphoblastoid silent region 11537 [Gene]
  • LOC129933872:ATAC-STARR-seq lymphoblastoid silent region 11538 [Gene]
  • LOC129933873:ATAC-STARR-seq lymphoblastoid silent region 11539 [Gene]
  • LOC129933878:ATAC-STARR-seq lymphoblastoid silent region 11540 [Gene]
  • LOC129933879:ATAC-STARR-seq lymphoblastoid silent region 11541 [Gene]
  • LOC129933883:ATAC-STARR-seq lymphoblastoid silent region 11542 [Gene]
  • LOC129933888:ATAC-STARR-seq lymphoblastoid silent region 11543 [Gene]
  • LOC129933891:ATAC-STARR-seq lymphoblastoid silent region 11544 [Gene]
  • LOC129933892:ATAC-STARR-seq lymphoblastoid silent region 11545 [Gene]
  • LOC129933893:ATAC-STARR-seq lymphoblastoid silent region 11546 [Gene]
  • LOC129933896:ATAC-STARR-seq lymphoblastoid silent region 11547 [Gene]
  • LOC129933897:ATAC-STARR-seq lymphoblastoid silent region 11548 [Gene]
  • LOC129933898:ATAC-STARR-seq lymphoblastoid silent region 11549 [Gene]
  • LOC129933899:ATAC-STARR-seq lymphoblastoid silent region 11550 [Gene]
  • LOC129933900:ATAC-STARR-seq lymphoblastoid silent region 11551 [Gene]
  • BCL11A:BCL11 transcription factor A [Gene - OMIM - HGNC]
  • LOC126806225:BRD4-independent group 4 enhancer GRCh37_chr2:62552835-62554034 [Gene]
  • C2orf74-AS1:C2orf74 antisense RNA 1 [Gene - HGNC]
  • C2orf74-DT:C2orf74 divergent transcript [Gene - HGNC]
  • EHBP1:EH domain binding protein 1 [Gene - OMIM - HGNC]
  • EHBP1-AS1:EHBP1 antisense RNA 1 [Gene - HGNC]
  • FAM161A:FAM161 centrosomal protein A [Gene - OMIM - HGNC]
  • LOC126806224:MED14-independent group 3 enhancer GRCh37_chr2:61504619-61505818 [Gene]
  • LOC126806226:MED14-independent group 3 enhancer GRCh37_chr2:62728217-62729416 [Gene]
  • LOC126806228:MED14-independent group 3 enhancer GRCh37_chr2:64306933-64308132 [Gene]
  • MIR4432HG:MIR4432 host gene [Gene - HGNC]
  • LOC129388867:MPRA-validated peak3715 silencer [Gene]
  • LOC129388868:MPRA-validated peak3716 silencer [Gene]
  • LOC129388869:MPRA-validated peak3717 silencer [Gene]
  • LOC129388870:MPRA-validated peak3721 silencer [Gene]
  • LOC129388871:MPRA-validated peak3722 silencer [Gene]
  • LOC129388872:MPRA-validated peak3724 silencer [Gene]
  • LOC129388873:MPRA-validated peak3728 silencer [Gene]
  • LOC129388874:MPRA-validated peak3729 silencer [Gene]
  • LOC129388875:MPRA-validated peak3731 silencer [Gene]
  • LOC126806227:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:62804913-62806112 [Gene]
  • REL-DT:REL divergent transcript [Gene - HGNC]
  • REL:REL proto-oncogene, NF-kB subunit [Gene - OMIM - HGNC]
  • SANBR:SANT and BTB domain regulator of CSR [Gene - OMIM - HGNC]
  • LOC122757952:Sharpr-MPRA regulatory region 11227 [Gene]
  • LOC122757953:Sharpr-MPRA regulatory region 12243 [Gene]
  • LOC122757950:Sharpr-MPRA regulatory region 13579 [Gene]
  • LOC122757949:Sharpr-MPRA regulatory region 13586 [Gene]
  • LOC122757954:Sharpr-MPRA regulatory region 1961 [Gene]
  • LOC120961760:Sharpr-MPRA regulatory region 2379 [Gene]
  • LOC121725091:Sharpr-MPRA regulatory region 3143 [Gene]
  • LOC122757955:Sharpr-MPRA regulatory region 3928 [Gene]
  • LOC122757951:Sharpr-MPRA regulatory region 6736 [Gene]
  • LOC122757956:Sharpr-MPRA regulatory region 742 [Gene]
  • B3GNT2:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 [Gene - OMIM - HGNC]
  • UGP2:UDP-glucose pyrophosphorylase 2 [Gene - OMIM - HGNC]
  • USP34-DT:USP34 divergent transcript [Gene - HGNC]
  • LOC110120978:VISTA enhancer hs1066 [Gene]
  • LOC110120997:VISTA enhancer hs1119 [Gene]
  • LOC110121003:VISTA enhancer hs1142 [Gene]
  • LOC110121018:VISTA enhancer hs1181 [Gene]
  • LOC110121024:VISTA enhancer hs1199 [Gene]
  • LOC110121136:VISTA enhancer hs1535 [Gene]
  • LOC110120667:VISTA enhancer hs393 [Gene]
  • LOC110120668:VISTA enhancer hs394 [Gene]
  • LOC110120669:VISTA enhancer hs399 [Gene]
  • LOC110120746:VISTA enhancer hs690 [Gene]
  • LOC110120767:VISTA enhancer hs779 [Gene]
  • LOC110120782:VISTA enhancer hs836 [Gene]
  • LOC110120811:VISTA enhancer hs957 [Gene]
  • LOC110120817:VISTA enhancer hs975 [Gene]
  • VPS54:VPS54 subunit of GARP complex [Gene - OMIM - HGNC]
  • WDPCP:WD repeat containing planar cell polarity effector [Gene - OMIM - HGNC]
  • CCT4:chaperonin containing TCP1 subunit 4 [Gene - OMIM - HGNC]
  • C2orf74:chromosome 2 open reading frame 74 [Gene - HGNC]
  • COMMD1:copper metabolism domain containing 1 [Gene - OMIM - HGNC]
  • XPO1:exportin 1 [Gene - OMIM - HGNC]
  • LINC01122:long intergenic non-protein coding RNA 1122 [Gene - HGNC]
  • LINC01793:long intergenic non-protein coding RNA 1793 [Gene - HGNC]
  • LINC00309:long intergenic non-protein coding RNA 309 [Gene - HGNC]
  • MDH1:malate dehydrogenase 1 [Gene - OMIM - HGNC]
  • MIR4432:microRNA 4432 [Gene - HGNC]
  • MIR5192:microRNA 5192 [Gene - HGNC]
  • OTX1:orthodenticle homeobox 1 [Gene - OMIM - HGNC]
  • PELI1:pellino E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • PEX13:peroxisomal biogenesis factor 13 [Gene - OMIM - HGNC]
  • PAPOLG:poly(A) polymerase gamma [Gene - OMIM - HGNC]
  • PUS10:pseudouridine synthase 10 [Gene - OMIM - HGNC]
  • SNORA70B:small nucleolar RNA, H/ACA box 70B [Gene - HGNC]
  • TMEM17:transmembrane protein 17 [Gene - OMIM - HGNC]
  • USP34:ubiquitin specific peptidase 34 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2p16.1-14
Genomic location:
Preferred name:
GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1
HGVS:
  • NC_000002.12:g.(?_58873039)_(64190332_?)del
  • NC_000002.10:g.(?_58953678)_(64270970_?)del
  • NC_000002.11:g.(?_59100174)_(64417466_?)del
Links:
dbVar: nssv577700; dbVar: nsv532690
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
SCV000081385GeneDx
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, SCV000081385.5

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

Last Updated: Oct 14, 2023