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GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)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:
RCV000052634.6

Allele description [Variation Report for GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1]

GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1

Genes:
  • ACSL3-AS1:ACSL3 antisense RNA 1 [Gene - HGNC]
  • ASIC4-AS1:ASIC4 antisense RNA 1 [Gene - HGNC]
  • LOC129935635:ATAC-STARR-seq lymphoblastoid active region 17139 [Gene]
  • LOC129935636:ATAC-STARR-seq lymphoblastoid active region 17140 [Gene]
  • LOC129935640:ATAC-STARR-seq lymphoblastoid active region 17141 [Gene]
  • LOC129935642:ATAC-STARR-seq lymphoblastoid active region 17144 [Gene]
  • LOC129935643:ATAC-STARR-seq lymphoblastoid active region 17145 [Gene]
  • LOC129935644:ATAC-STARR-seq lymphoblastoid active region 17146 [Gene]
  • LOC129935645:ATAC-STARR-seq lymphoblastoid active region 17147 [Gene]
  • LOC129935647:ATAC-STARR-seq lymphoblastoid active region 17148 [Gene]
  • LOC129935649:ATAC-STARR-seq lymphoblastoid active region 17149 [Gene]
  • LOC129935650:ATAC-STARR-seq lymphoblastoid active region 17150 [Gene]
  • LOC129935651:ATAC-STARR-seq lymphoblastoid active region 17151 [Gene]
  • LOC129935655:ATAC-STARR-seq lymphoblastoid active region 17153 [Gene]
  • LOC129935656:ATAC-STARR-seq lymphoblastoid active region 17154 [Gene]
  • LOC129935661:ATAC-STARR-seq lymphoblastoid active region 17155 [Gene]
  • LOC129935662:ATAC-STARR-seq lymphoblastoid active region 17156 [Gene]
  • LOC129935663:ATAC-STARR-seq lymphoblastoid active region 17157 [Gene]
  • LOC129935665:ATAC-STARR-seq lymphoblastoid active region 17158 [Gene]
  • LOC129935671:ATAC-STARR-seq lymphoblastoid active region 17160 [Gene]
  • LOC129935675:ATAC-STARR-seq lymphoblastoid active region 17161 [Gene]
  • LOC129935676:ATAC-STARR-seq lymphoblastoid active region 17162 [Gene]
  • LOC129935677:ATAC-STARR-seq lymphoblastoid active region 17163 [Gene]
  • LOC129935678:ATAC-STARR-seq lymphoblastoid active region 17164 [Gene]
  • LOC129935679:ATAC-STARR-seq lymphoblastoid active region 17165 [Gene]
  • LOC129935680:ATAC-STARR-seq lymphoblastoid active region 17166 [Gene]
  • LOC129935682:ATAC-STARR-seq lymphoblastoid active region 17167 [Gene]
  • LOC129935683:ATAC-STARR-seq lymphoblastoid active region 17169 [Gene]
  • LOC129935686:ATAC-STARR-seq lymphoblastoid active region 17170 [Gene]
  • LOC129935687:ATAC-STARR-seq lymphoblastoid active region 17171 [Gene]
  • LOC129935688:ATAC-STARR-seq lymphoblastoid active region 17172 [Gene]
  • LOC129935689:ATAC-STARR-seq lymphoblastoid active region 17173 [Gene]
  • LOC129935690:ATAC-STARR-seq lymphoblastoid active region 17174 [Gene]
  • LOC129935693:ATAC-STARR-seq lymphoblastoid active region 17175 [Gene]
  • LOC129935694:ATAC-STARR-seq lymphoblastoid active region 17176 [Gene]
  • LOC129935695:ATAC-STARR-seq lymphoblastoid active region 17177 [Gene]
  • LOC129935696:ATAC-STARR-seq lymphoblastoid active region 17178 [Gene]
  • LOC129935697:ATAC-STARR-seq lymphoblastoid active region 17179 [Gene]
  • LOC129935698:ATAC-STARR-seq lymphoblastoid active region 17180 [Gene]
  • LOC129935699:ATAC-STARR-seq lymphoblastoid active region 17181 [Gene]
  • LOC129935700:ATAC-STARR-seq lymphoblastoid active region 17182 [Gene]
  • LOC129935701:ATAC-STARR-seq lymphoblastoid active region 17183 [Gene]
  • LOC129935704:ATAC-STARR-seq lymphoblastoid active region 17184 [Gene]
  • LOC129935705:ATAC-STARR-seq lymphoblastoid active region 17185 [Gene]
  • LOC129935706:ATAC-STARR-seq lymphoblastoid active region 17186 [Gene]
  • LOC129935711:ATAC-STARR-seq lymphoblastoid active region 17187 [Gene]
  • LOC129935712:ATAC-STARR-seq lymphoblastoid active region 17188 [Gene]
  • LOC129935713:ATAC-STARR-seq lymphoblastoid active region 17189 [Gene]
  • LOC129935715:ATAC-STARR-seq lymphoblastoid active region 17190 [Gene]
  • LOC129935716:ATAC-STARR-seq lymphoblastoid active region 17191 [Gene]
  • LOC129935634:ATAC-STARR-seq lymphoblastoid silent region 12340 [Gene]
  • LOC129935637:ATAC-STARR-seq lymphoblastoid silent region 12342 [Gene]
  • LOC129935638:ATAC-STARR-seq lymphoblastoid silent region 12343 [Gene]
  • LOC129935639:ATAC-STARR-seq lymphoblastoid silent region 12346 [Gene]
  • LOC129935641:ATAC-STARR-seq lymphoblastoid silent region 12347 [Gene]
  • LOC129935646:ATAC-STARR-seq lymphoblastoid silent region 12351 [Gene]
  • LOC129935648:ATAC-STARR-seq lymphoblastoid silent region 12352 [Gene]
  • LOC129935652:ATAC-STARR-seq lymphoblastoid silent region 12354 [Gene]
  • LOC129935653:ATAC-STARR-seq lymphoblastoid silent region 12355 [Gene]
  • LOC129935654:ATAC-STARR-seq lymphoblastoid silent region 12356 [Gene]
  • LOC129935657:ATAC-STARR-seq lymphoblastoid silent region 12358 [Gene]
  • LOC129935658:ATAC-STARR-seq lymphoblastoid silent region 12359 [Gene]
  • LOC129935659:ATAC-STARR-seq lymphoblastoid silent region 12360 [Gene]
  • LOC129935660:ATAC-STARR-seq lymphoblastoid silent region 12361 [Gene]
  • LOC129935664:ATAC-STARR-seq lymphoblastoid silent region 12363 [Gene]
  • LOC129935666:ATAC-STARR-seq lymphoblastoid silent region 12364 [Gene]
  • LOC129935667:ATAC-STARR-seq lymphoblastoid silent region 12365 [Gene]
  • LOC129935668:ATAC-STARR-seq lymphoblastoid silent region 12366 [Gene]
  • LOC129935669:ATAC-STARR-seq lymphoblastoid silent region 12367 [Gene]
  • LOC129935670:ATAC-STARR-seq lymphoblastoid silent region 12368 [Gene]
  • LOC129935672:ATAC-STARR-seq lymphoblastoid silent region 12369 [Gene]
  • LOC129935673:ATAC-STARR-seq lymphoblastoid silent region 12370 [Gene]
  • LOC129935674:ATAC-STARR-seq lymphoblastoid silent region 12371 [Gene]
  • LOC129935681:ATAC-STARR-seq lymphoblastoid silent region 12372 [Gene]
  • LOC129935684:ATAC-STARR-seq lymphoblastoid silent region 12374 [Gene]
  • LOC129935685:ATAC-STARR-seq lymphoblastoid silent region 12375 [Gene]
  • LOC129935691:ATAC-STARR-seq lymphoblastoid silent region 12376 [Gene]
  • LOC129935692:ATAC-STARR-seq lymphoblastoid silent region 12377 [Gene]
  • LOC129935702:ATAC-STARR-seq lymphoblastoid silent region 12378 [Gene]
  • LOC129935703:ATAC-STARR-seq lymphoblastoid silent region 12379 [Gene]
  • LOC129935707:ATAC-STARR-seq lymphoblastoid silent region 12380 [Gene]
  • LOC129935708:ATAC-STARR-seq lymphoblastoid silent region 12381 [Gene]
  • LOC129935709:ATAC-STARR-seq lymphoblastoid silent region 12382 [Gene]
  • LOC129935710:ATAC-STARR-seq lymphoblastoid silent region 12383 [Gene]
  • LOC129935714:ATAC-STARR-seq lymphoblastoid silent region 12384 [Gene]
  • LOC129935717:ATAC-STARR-seq lymphoblastoid silent region 12385 [Gene]
  • LOC129935718:ATAC-STARR-seq lymphoblastoid silent region 12386 [Gene]
  • ABCB6:ATP binding cassette subfamily B member 6 (LAN blood group) [Gene - OMIM - HGNC]
  • LOC126806524:BRD4-independent group 4 enhancer GRCh37_chr2:221494672-221495871 [Gene]
  • LOC126806527:BRD4-independent group 4 enhancer GRCh37_chr2:222289669-222290868 [Gene]
  • LOC126806531:BRD4-independent group 4 enhancer GRCh37_chr2:224561972-224563171 [Gene]
  • LOC126806532:BRD4-independent group 4 enhancer GRCh37_chr2:224590012-224591211 [Gene]
  • CCDC140:CCDC140 long non-coding RNA [Gene - HGNC]
  • LOC126806517:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220199445-220200644 [Gene]
  • LOC126806519:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220469784-220470983 [Gene]
  • LOC126806520:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220552697-220553896 [Gene]
  • LOC126806528:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:222760870-222762069 [Gene]
  • LOC126806529:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:223084735-223085934 [Gene]
  • LOC112840903:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:224563821-224565020 [Gene]
  • LOC126806537:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:225968140-225969339 [Gene]
  • LOC115947633:CRISPRi-validated cis-regulatory element chr2.6714 [Gene]
  • DNPEP-AS1:DNPEP antisense RNA 1 [Gene - HGNC]
  • DNAJB2:DnaJ heat shock protein family (Hsp40) member B2 [Gene - OMIM - HGNC]
  • EPHA4:EPH receptor A4 [Gene - OMIM - HGNC]
  • LOC111501760:GATA motif-containing MPRA enhancer 279/280 [Gene]
  • GMPPA:GDP-mannose pyrophosphorylase A [Gene - OMIM - HGNC]
  • LOC112806081:MED14-independent group 3 enhancer GRCh37_chr2:220548733-220549932 [Gene]
  • LOC126806521:MED14-independent group 3 enhancer GRCh37_chr2:220563164-220564363 [Gene]
  • LOC126806525:MED14-independent group 3 enhancer GRCh37_chr2:221700003-221701202 [Gene]
  • LOC126806526:MED14-independent group 3 enhancer GRCh37_chr2:221719713-221720912 [Gene]
  • LOC126806530:MED14-independent group 3 enhancer GRCh37_chr2:224413358-224414557 [Gene]
  • LOC126806533:MED14-independent group 3 enhancer GRCh37_chr2:224874015-224875214 [Gene]
  • LOC126806534:MED14-independent group 3 enhancer GRCh37_chr2:225084524-225085723 [Gene]
  • LOC126806535:MED14-independent group 3 enhancer GRCh37_chr2:225349417-225350616 [Gene]
  • LOC129388993:MPRA-validated peak4046 silencer [Gene]
  • LOC132088821:Neanderthal introgressed variant-containing enhancer experimental_57049 [Gene]
  • LOC126806518:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:220317062-220318261 [Gene]
  • LOC126806522:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:220833104-220834303 [Gene]
  • LOC126806523:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:221483874-221485073 [Gene]
  • LOC121725116:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:222381886-222383085 [Gene]
  • LOC126806536:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:225965176-225966375 [Gene]
  • LOC107980445:PAX3 promoter region [Gene]
  • SPEGNB:SPEG neighbor [Gene - HGNC]
  • LOC122861296:Sharpr-MPRA regulatory region 1258 [Gene]
  • LOC112840902:Sharpr-MPRA regulatory region 12775 [Gene]
  • LOC120977025:Sharpr-MPRA regulatory region 13803 [Gene]
  • LOC114004368:Sharpr-MPRA regulatory region 13948 [Gene]
  • LOC112840901:Sharpr-MPRA regulatory region 14563 [Gene]
  • LOC122861299:Sharpr-MPRA regulatory region 15139 [Gene]
  • LOC122861302:Sharpr-MPRA regulatory region 15583 [Gene]
  • LOC121009626:Sharpr-MPRA regulatory region 15624 [Gene]
  • LOC121009627:Sharpr-MPRA regulatory region 1647 [Gene]
  • LOC122861301:Sharpr-MPRA regulatory region 2258 [Gene]
  • LOC122861298:Sharpr-MPRA regulatory region 2575 [Gene]
  • LOC122861295:Sharpr-MPRA regulatory region 4906 [Gene]
  • LOC121725115:Sharpr-MPRA regulatory region 6063 [Gene]
  • LOC122861300:Sharpr-MPRA regulatory region 6911 [Gene]
  • LOC122861297:Sharpr-MPRA regulatory region 7025 [Gene]
  • LOC121725117:Sharpr-MPRA regulatory region 7272 [Gene]
  • LOC122861294:Sharpr-MPRA regulatory region 8597 [Gene]
  • LOC112806080:Sharpr-MPRA regulatory region 8639 [Gene]
  • LOC121725114:Sharpr-MPRA regulatory region 8831 [Gene]
  • LOC122861293:Sharpr-MPRA regulatory region 9830 [Gene]
  • LOC112840900:Sharpr-MPRA regulatory region 9896 [Gene]
  • LOC111828512:Sharpr-MPRA regulatory regions 6546 and 9925 [Gene]
  • LOC110121128:VISTA enhancer hs1507 [Gene]
  • LOC110121169:VISTA enhancer hs1635 [Gene]
  • LOC110121267:VISTA enhancer hs2169 [Gene]
  • WDFY1:WD repeat and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • ASIC4:acid sensing ion channel subunit family member 4 [Gene - OMIM - HGNC]
  • ACSL3:acyl-CoA synthetase long chain family member 3 [Gene - OMIM - HGNC]
  • AP1S3:adaptor related protein complex 1 subunit sigma 3 [Gene - OMIM - HGNC]
  • ANKZF1:ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 [Gene - OMIM - HGNC]
  • DNPEP:aspartyl aminopeptidase [Gene - OMIM - HGNC]
  • ATG9A:autophagy related 9A [Gene - OMIM - HGNC]
  • CT75:cancer/testis associated transcript 75 [Gene - HGNC]
  • CHPF:chondroitin polymerizing factor [Gene - OMIM - HGNC]
  • CCDC195:coiled-coil domain containing 195 [Gene - HGNC]
  • CUL3:cullin 3 [Gene - OMIM - HGNC]
  • CNPPD1:cyclin Pas1/PHO80 domain containing 1 [Gene - HGNC]
  • DOCK10:dedicator of cytokinesis 10 [Gene - OMIM - HGNC]
  • DES-LCR:desmin locus control region [Gene]
  • DES:desmin [Gene - OMIM - HGNC]
  • FAM124B:family with sequence similarity 124 member B [Gene - OMIM - HGNC]
  • GLB1L:galactosidase beta 1 like [Gene - HGNC]
  • INHA:inhibin subunit alpha [Gene - OMIM - HGNC]
  • LINC01803:long intergenic non-protein coding RNA 1803 [Gene - HGNC]
  • LINC02832:long intergenic non-protein coding RNA 2832 [Gene - HGNC]
  • MIR153-1:microRNA 153-1 [Gene - HGNC]
  • MIR3132:microRNA 3132 [Gene - HGNC]
  • MIR4268:microRNA 4268 [Gene - HGNC]
  • MIR4439:microRNA 4439 [Gene - HGNC]
  • MRPL44:mitochondrial ribosomal protein L44 [Gene - OMIM - HGNC]
  • MOGAT1:monoacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
  • NYAP2:neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 [Gene - OMIM - HGNC]
  • NHEJ1:non-homologous end joining factor 1 [Gene - OMIM - HGNC]
  • OBSL1:obscurin like cytoskeletal adaptor 1 [Gene - OMIM - HGNC]
  • PAX3:paired box 3 [Gene - OMIM - HGNC]
  • FARSB:phenylalanyl-tRNA synthetase subunit beta [Gene - OMIM - HGNC]
  • KCNE4:potassium voltage-gated channel subfamily E regulatory subunit 4 [Gene - OMIM - HGNC]
  • PTPRN:protein tyrosine phosphatase receptor type N [Gene - OMIM - HGNC]
  • RESP18:regulated endocrine specific protein 18 [Gene - OMIM - HGNC]
  • RETREG2:reticulophagy regulator family member 2 [Gene - HGNC]
  • RNF228:ring finger protein 228 [Gene - HGNC]
  • SCG2:secretogranin II [Gene - OMIM - HGNC]
  • STK11IP:serine/threonine kinase 11 interacting protein [Gene - OMIM - HGNC]
  • STK16:serine/threonine kinase 16 [Gene - OMIM - HGNC]
  • SERPINE2:serpin family E member 2 [Gene - OMIM - HGNC]
  • SLC23A3:solute carrier family 23 member 3 [Gene - OMIM - HGNC]
  • SLC4A3:solute carrier family 4 member 3 [Gene - OMIM - HGNC]
  • SGPP2:sphingosine-1-phosphate phosphatase 2 [Gene - OMIM - HGNC]
  • SPEG:striated muscle enriched protein kinase [Gene - OMIM - HGNC]
  • TMEM198:transmembrane protein 198 [Gene - HGNC]
  • TUBA4A:tubulin alpha 4a [Gene - OMIM - HGNC]
  • TUBA4B:tubulin alpha 4b [Gene - HGNC]
  • LOC105373907:uncharacterized LOC105373907 [Gene]
  • ZFAND2B:zinc finger AN1-type containing 2B [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q35-36.3
Genomic location:
Preferred name:
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1
HGVS:
  • NC_000002.12:g.(?_219081620)_(225430308_?)del
  • NC_000002.10:g.(?_219654586)_(226003268_?)del
  • NC_000002.11:g.(?_219946342)_(226295024_?)del
Links:
dbVar: nssv577756; dbVar: nsv531349
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
SCV000079988ISCA site 4

See additional submitters

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 ISCA site 4, SCV000079988.4

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

Last Updated: May 7, 2024