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GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 18, 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:
RCV000135665.7

Allele description [Variation Report for GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1]

GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1

Genes:
  • LOC108281167:AOX3P-AOX2P intron CAGE-defined mid-level expression enhancer [Gene]
  • LOC129935355:ATAC-STARR-seq lymphoblastoid active region 16934 [Gene]
  • LOC129935356:ATAC-STARR-seq lymphoblastoid active region 16935 [Gene]
  • LOC129935357:ATAC-STARR-seq lymphoblastoid active region 16938 [Gene]
  • LOC129935360:ATAC-STARR-seq lymphoblastoid active region 16939 [Gene]
  • LOC129935362:ATAC-STARR-seq lymphoblastoid active region 16940 [Gene]
  • LOC129935363:ATAC-STARR-seq lymphoblastoid active region 16941 [Gene]
  • LOC129935365:ATAC-STARR-seq lymphoblastoid active region 16942 [Gene]
  • LOC129935366:ATAC-STARR-seq lymphoblastoid active region 16943 [Gene]
  • LOC129935367:ATAC-STARR-seq lymphoblastoid active region 16944 [Gene]
  • LOC129935369:ATAC-STARR-seq lymphoblastoid active region 16945 [Gene]
  • LOC129935370:ATAC-STARR-seq lymphoblastoid active region 16946 [Gene]
  • LOC129935371:ATAC-STARR-seq lymphoblastoid active region 16947 [Gene]
  • LOC129935372:ATAC-STARR-seq lymphoblastoid active region 16948 [Gene]
  • LOC129935373:ATAC-STARR-seq lymphoblastoid active region 16949 [Gene]
  • LOC129935377:ATAC-STARR-seq lymphoblastoid active region 16950 [Gene]
  • LOC129935378:ATAC-STARR-seq lymphoblastoid active region 16955 [Gene]
  • LOC129935381:ATAC-STARR-seq lymphoblastoid active region 16956 [Gene]
  • LOC129935382:ATAC-STARR-seq lymphoblastoid active region 16957 [Gene]
  • LOC129935383:ATAC-STARR-seq lymphoblastoid active region 16958 [Gene]
  • LOC129935384:ATAC-STARR-seq lymphoblastoid active region 16959 [Gene]
  • LOC129935385:ATAC-STARR-seq lymphoblastoid active region 16960 [Gene]
  • LOC129935388:ATAC-STARR-seq lymphoblastoid active region 16961 [Gene]
  • LOC129935389:ATAC-STARR-seq lymphoblastoid active region 16962 [Gene]
  • LOC129935391:ATAC-STARR-seq lymphoblastoid active region 16963 [Gene]
  • LOC129935392:ATAC-STARR-seq lymphoblastoid active region 16964 [Gene]
  • LOC129935393:ATAC-STARR-seq lymphoblastoid active region 16965 [Gene]
  • LOC129935394:ATAC-STARR-seq lymphoblastoid active region 16968 [Gene]
  • LOC129935395:ATAC-STARR-seq lymphoblastoid active region 16969 [Gene]
  • LOC129935396:ATAC-STARR-seq lymphoblastoid active region 16970 [Gene]
  • LOC129935397:ATAC-STARR-seq lymphoblastoid active region 16971 [Gene]
  • LOC129935398:ATAC-STARR-seq lymphoblastoid active region 16974 [Gene]
  • LOC129935400:ATAC-STARR-seq lymphoblastoid active region 16975 [Gene]
  • LOC129935402:ATAC-STARR-seq lymphoblastoid active region 16978 [Gene]
  • LOC129935403:ATAC-STARR-seq lymphoblastoid active region 16979 [Gene]
  • LOC129935404:ATAC-STARR-seq lymphoblastoid active region 16980 [Gene]
  • LOC129935405:ATAC-STARR-seq lymphoblastoid active region 16981 [Gene]
  • LOC129935406:ATAC-STARR-seq lymphoblastoid active region 16982 [Gene]
  • LOC129935407:ATAC-STARR-seq lymphoblastoid active region 16983 [Gene]
  • LOC129935408:ATAC-STARR-seq lymphoblastoid active region 16984 [Gene]
  • LOC129935409:ATAC-STARR-seq lymphoblastoid active region 16985 [Gene]
  • LOC129935410:ATAC-STARR-seq lymphoblastoid active region 16986 [Gene]
  • LOC129935411:ATAC-STARR-seq lymphoblastoid active region 16988 [Gene]
  • LOC129935412:ATAC-STARR-seq lymphoblastoid active region 16989 [Gene]
  • LOC129935413:ATAC-STARR-seq lymphoblastoid active region 16990 [Gene]
  • LOC129935419:ATAC-STARR-seq lymphoblastoid active region 16992 [Gene]
  • LOC129935420:ATAC-STARR-seq lymphoblastoid active region 16993 [Gene]
  • LOC129935421:ATAC-STARR-seq lymphoblastoid active region 16994 [Gene]
  • LOC129935423:ATAC-STARR-seq lymphoblastoid active region 16995 [Gene]
  • LOC129935358:ATAC-STARR-seq lymphoblastoid silent region 12213 [Gene]
  • LOC129935359:ATAC-STARR-seq lymphoblastoid silent region 12214 [Gene]
  • LOC129935361:ATAC-STARR-seq lymphoblastoid silent region 12215 [Gene]
  • LOC129935364:ATAC-STARR-seq lymphoblastoid silent region 12216 [Gene]
  • LOC129935368:ATAC-STARR-seq lymphoblastoid silent region 12217 [Gene]
  • LOC129935374:ATAC-STARR-seq lymphoblastoid silent region 12218 [Gene]
  • LOC129935375:ATAC-STARR-seq lymphoblastoid silent region 12219 [Gene]
  • LOC129935376:ATAC-STARR-seq lymphoblastoid silent region 12220 [Gene]
  • LOC129935379:ATAC-STARR-seq lymphoblastoid silent region 12223 [Gene]
  • LOC129935380:ATAC-STARR-seq lymphoblastoid silent region 12224 [Gene]
  • LOC129935386:ATAC-STARR-seq lymphoblastoid silent region 12225 [Gene]
  • LOC129935387:ATAC-STARR-seq lymphoblastoid silent region 12226 [Gene]
  • LOC129935390:ATAC-STARR-seq lymphoblastoid silent region 12227 [Gene]
  • LOC129935399:ATAC-STARR-seq lymphoblastoid silent region 12229 [Gene]
  • LOC129935401:ATAC-STARR-seq lymphoblastoid silent region 12230 [Gene]
  • LOC129935414:ATAC-STARR-seq lymphoblastoid silent region 12232 [Gene]
  • LOC129935415:ATAC-STARR-seq lymphoblastoid silent region 12233 [Gene]
  • LOC129935416:ATAC-STARR-seq lymphoblastoid silent region 12234 [Gene]
  • LOC129935417:ATAC-STARR-seq lymphoblastoid silent region 12235 [Gene]
  • LOC129935418:ATAC-STARR-seq lymphoblastoid silent region 12236 [Gene]
  • LOC129935422:ATAC-STARR-seq lymphoblastoid silent region 12237 [Gene]
  • LOC129935424:ATAC-STARR-seq lymphoblastoid silent region 12238 [Gene]
  • LOC129935425:ATAC-STARR-seq lymphoblastoid silent region 12239 [Gene]
  • LOC126806460:BRD4-independent group 4 enhancer GRCh37_chr2:198299380-198300579 [Gene]
  • LOC126806464:BRD4-independent group 4 enhancer GRCh37_chr2:201109283-201110482 [Gene]
  • LOC126806466:BRD4-independent group 4 enhancer GRCh37_chr2:201253767-201254966 [Gene]
  • LOC126806470:BRD4-independent group 4 enhancer GRCh37_chr2:201753436-201754635 [Gene]
  • BZW1-AS1:BZW1 antisense RNA 1 [Gene - HGNC]
  • C2CD6:C2 calcium dependent domain containing 6 [Gene - OMIM - HGNC]
  • CFLAR:CASP8 and FADD like apoptosis regulator [Gene - OMIM - HGNC]
  • CLK1:CDC like kinase 1 [Gene - OMIM - HGNC]
  • LOC126806461:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:198773623-198774822 [Gene]
  • LOC126806463:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:200819858-200821057 [Gene]
  • CFLAR-AS1:CFLAR antisense RNA 1 [Gene - HGNC]
  • HSPE1-MOB4:HSPE1-MOB4 readthrough [Gene - HGNC]
  • KIAA2012-AS1:KIAA2012 antisense RNA 1 [Gene - HGNC]
  • KIAA2012:KIAA2012 [Gene - HGNC]
  • MPP4:MAGUK p55 scaffold protein 4 [Gene - OMIM - HGNC]
  • LOC126806462:MED14-independent group 3 enhancer GRCh37_chr2:200136608-200137807 [Gene]
  • LOC126806467:MED14-independent group 3 enhancer GRCh37_chr2:201270083-201271282 [Gene]
  • LOC126806469:MED14-independent group 3 enhancer GRCh37_chr2:201513174-201514373 [Gene]
  • LOC126806472:MED14-independent group 3 enhancer GRCh37_chr2:202903328-202904527 [Gene]
  • MOB4:MOB family member 4, phocein [Gene - OMIM - HGNC]
  • LOC129388981:MPRA-validated peak4010 silencer [Gene]
  • LOC129388982:MPRA-validated peak4013 silencer [Gene]
  • NDUFB3:NADH:ubiquinone oxidoreductase subunit B3 [Gene - OMIM - HGNC]
  • LOC120977019:NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202813665-202814208 [Gene]
  • NIF3L1:NGG1 interacting factor 3 like 1 [Gene - OMIM - HGNC]
  • LOC126806465:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:201167128-201168327 [Gene]
  • LOC126806468:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:201473343-201474542 [Gene]
  • LOC126806471:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:202015298-202016497 [Gene]
  • LOC108353821:PLCL1 intron CAGE-defined T cell enhancer [Gene]
  • SATB2:SATB homeobox 2 [Gene - OMIM - HGNC]
  • SATB2-AS1:SATB2 antisense RNA 1 [Gene - HGNC]
  • STRADB:STE20 related adaptor beta [Gene - OMIM - HGNC]
  • LOC122861277:Sharpr-MPRA regulatory region 10379 [Gene]
  • LOC122861274:Sharpr-MPRA regulatory region 13904 [Gene]
  • LOC112806071:Sharpr-MPRA regulatory region 14302 [Gene]
  • LOC122861276:Sharpr-MPRA regulatory region 2520 [Gene]
  • LOC120977018:Sharpr-MPRA regulatory region 5577 [Gene]
  • LOC112806073:Sharpr-MPRA regulatory region 6083 [Gene]
  • LOC122861278:Sharpr-MPRA regulatory region 624 [Gene]
  • LOC122861275:Sharpr-MPRA regulatory region 7560 [Gene]
  • AOX1:aldehyde oxidase 1 [Gene - OMIM - HGNC]
  • ALS2:alsin Rho guanine nucleotide exchange factor ALS2 [Gene - OMIM - HGNC]
  • BZW1:basic leucine zipper and W2 domains 1 [Gene - OMIM - HGNC]
  • BOLL:boule homolog, RNA binding protein [Gene - OMIM - HGNC]
  • CASP10:caspase 10 [Gene - OMIM - HGNC]
  • CASP8:caspase 8 [Gene - OMIM - HGNC]
  • C2orf69:chromosome 2 open reading frame 69 [Gene - OMIM - HGNC]
  • COQ10B:coenzyme Q10B [Gene - OMIM - HGNC]
  • CDK15:cyclin dependent kinase 15 [Gene - OMIM - HGNC]
  • FLACC1:flagellum associated containing coiled-coil domains 1 [Gene - OMIM - HGNC]
  • FTCDNL1:formiminotransferase cyclodeaminase N-terminal like [Gene - OMIM - HGNC]
  • FZD7:frizzled class receptor 7 [Gene - OMIM - HGNC]
  • HSPD1:heat shock protein family D (Hsp60) member 1 [Gene - OMIM - HGNC]
  • HSPE1:heat shock protein family E (Hsp10) member 1 [Gene - OMIM - HGNC]
  • HYCC2:hyccin PI4KA lipid kinase complex subunit 2 [Gene - HGNC]
  • LINC01792:long intergenic non-protein coding RNA 1792 [Gene - HGNC]
  • LINC01877:long intergenic non-protein coding RNA 1877 [Gene - HGNC]
  • LINC01923:long intergenic non-protein coding RNA 1923 [Gene - HGNC]
  • MAIP1:matrix AAA peptidase interacting protein 1 [Gene - OMIM - HGNC]
  • LOC128772255:melanoma risk locus-associated MPRA allelic enhancer 2:202122995 [Gene]
  • LOC128772256:melanoma risk locus-associated MPRA allelic enhancer 2:202153225 [Gene]
  • MARS2:methionyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • ORC2:origin recognition complex subunit 2 [Gene - OMIM - HGNC]
  • PPIL3:peptidylprolyl isomerase like 3 [Gene - OMIM - HGNC]
  • PLCL1:phospholipase C like 1 (inactive) [Gene - OMIM - HGNC]
  • KCTD18:potassium channel tetramerization domain containing 18 [Gene - HGNC]
  • RFTN2:raftlin family member 2 [Gene - OMIM - HGNC]
  • SGO2:shugoshin 2 [Gene - OMIM - HGNC]
  • SNORA105B:small nucleolar RNA, H/ACA box 105B [Gene - HGNC]
  • SPATS2L:spermatogenesis associated serine rich 2 like [Gene - OMIM - HGNC]
  • SF3B1:splicing factor 3b subunit 1 [Gene - OMIM - HGNC]
  • TYW5:tRNA-yW synthesizing protein 5 [Gene - OMIM - HGNC]
  • TRAK2:trafficking kinesin protein 2 [Gene - OMIM - HGNC]
  • TMEM237:transmembrane protein 237 [Gene - OMIM - HGNC]
  • LOC105373835:uncharacterized LOC105373835 [Gene]
Variant type:
copy number loss
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1
HGVS:
  • NC_000002.12:g.(?_197400023)_(202089348_?)del
  • NC_000002.10:g.(?_197972992)_(202662316_?)del
  • NC_000002.11:g.(?_198264747)_(202954071_?)del
Links:
dbVar: nssv706413; dbVar: nsv530506
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
SCV000175547ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Feb 18, 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

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, SCV000175547.4

#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