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GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)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:
RCV000051092.6

Allele description [Variation Report for GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1]

GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1

Genes:
  • ANKRD44-AS1:ANKRD44 antisense RNA 1 [Gene - HGNC]
  • ANKRD44-IT1:ANKRD44 intronic transcript 1 [Gene - HGNC]
  • LOC129935296:ATAC-STARR-seq lymphoblastoid active region 16887 [Gene]
  • LOC129935297:ATAC-STARR-seq lymphoblastoid active region 16888 [Gene]
  • LOC129935298:ATAC-STARR-seq lymphoblastoid active region 16889 [Gene]
  • LOC129935302:ATAC-STARR-seq lymphoblastoid active region 16890 [Gene]
  • LOC129935303:ATAC-STARR-seq lymphoblastoid active region 16891 [Gene]
  • LOC129935304:ATAC-STARR-seq lymphoblastoid active region 16892 [Gene]
  • LOC129935305:ATAC-STARR-seq lymphoblastoid active region 16893 [Gene]
  • LOC129935306:ATAC-STARR-seq lymphoblastoid active region 16894 [Gene]
  • LOC129935307:ATAC-STARR-seq lymphoblastoid active region 16895 [Gene]
  • LOC129935308:ATAC-STARR-seq lymphoblastoid active region 16896 [Gene]
  • LOC129935311:ATAC-STARR-seq lymphoblastoid active region 16897 [Gene]
  • LOC129935312:ATAC-STARR-seq lymphoblastoid active region 16898 [Gene]
  • LOC129935313:ATAC-STARR-seq lymphoblastoid active region 16899 [Gene]
  • LOC129935314:ATAC-STARR-seq lymphoblastoid active region 16900 [Gene]
  • LOC129935315:ATAC-STARR-seq lymphoblastoid active region 16901 [Gene]
  • LOC129935316:ATAC-STARR-seq lymphoblastoid active region 16902 [Gene]
  • LOC129935317:ATAC-STARR-seq lymphoblastoid active region 16903 [Gene]
  • LOC129935318:ATAC-STARR-seq lymphoblastoid active region 16904 [Gene]
  • LOC129935319:ATAC-STARR-seq lymphoblastoid active region 16905 [Gene]
  • LOC129935320:ATAC-STARR-seq lymphoblastoid active region 16906 [Gene]
  • LOC129935321:ATAC-STARR-seq lymphoblastoid active region 16907 [Gene]
  • LOC129935322:ATAC-STARR-seq lymphoblastoid active region 16908 [Gene]
  • LOC129935323:ATAC-STARR-seq lymphoblastoid active region 16909 [Gene]
  • LOC129935326:ATAC-STARR-seq lymphoblastoid active region 16910 [Gene]
  • LOC129935327:ATAC-STARR-seq lymphoblastoid active region 16911 [Gene]
  • LOC129935328:ATAC-STARR-seq lymphoblastoid active region 16912 [Gene]
  • LOC129935329:ATAC-STARR-seq lymphoblastoid active region 16913 [Gene]
  • LOC129935330:ATAC-STARR-seq lymphoblastoid active region 16914 [Gene]
  • LOC129935331:ATAC-STARR-seq lymphoblastoid active region 16915 [Gene]
  • LOC129935334:ATAC-STARR-seq lymphoblastoid active region 16916 [Gene]
  • LOC129935335:ATAC-STARR-seq lymphoblastoid active region 16917 [Gene]
  • LOC129935336:ATAC-STARR-seq lymphoblastoid active region 16918 [Gene]
  • LOC129935337:ATAC-STARR-seq lymphoblastoid active region 16919 [Gene]
  • LOC129935338:ATAC-STARR-seq lymphoblastoid active region 16920 [Gene]
  • LOC129935340:ATAC-STARR-seq lymphoblastoid active region 16921 [Gene]
  • LOC129935341:ATAC-STARR-seq lymphoblastoid active region 16922 [Gene]
  • LOC129935342:ATAC-STARR-seq lymphoblastoid active region 16923 [Gene]
  • LOC129935343:ATAC-STARR-seq lymphoblastoid active region 16924 [Gene]
  • LOC129935344:ATAC-STARR-seq lymphoblastoid active region 16925 [Gene]
  • LOC129935346:ATAC-STARR-seq lymphoblastoid active region 16926 [Gene]
  • LOC129935347:ATAC-STARR-seq lymphoblastoid active region 16927 [Gene]
  • LOC129935348:ATAC-STARR-seq lymphoblastoid active region 16928 [Gene]
  • LOC129935349:ATAC-STARR-seq lymphoblastoid active region 16929 [Gene]
  • LOC129935350:ATAC-STARR-seq lymphoblastoid active region 16930 [Gene]
  • LOC129935351:ATAC-STARR-seq lymphoblastoid active region 16931 [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]
  • LOC129935299:ATAC-STARR-seq lymphoblastoid silent region 12199 [Gene]
  • LOC129935300:ATAC-STARR-seq lymphoblastoid silent region 12200 [Gene]
  • LOC129935301:ATAC-STARR-seq lymphoblastoid silent region 12201 [Gene]
  • LOC129935309:ATAC-STARR-seq lymphoblastoid silent region 12202 [Gene]
  • LOC129935310:ATAC-STARR-seq lymphoblastoid silent region 12203 [Gene]
  • LOC129935324:ATAC-STARR-seq lymphoblastoid silent region 12204 [Gene]
  • LOC129935325:ATAC-STARR-seq lymphoblastoid silent region 12205 [Gene]
  • LOC129935332:ATAC-STARR-seq lymphoblastoid silent region 12206 [Gene]
  • LOC129935333:ATAC-STARR-seq lymphoblastoid silent region 12207 [Gene]
  • LOC129935339:ATAC-STARR-seq lymphoblastoid silent region 12208 [Gene]
  • LOC129935345:ATAC-STARR-seq lymphoblastoid silent region 12209 [Gene]
  • LOC129935352:ATAC-STARR-seq lymphoblastoid silent region 12210 [Gene]
  • LOC129935353:ATAC-STARR-seq lymphoblastoid silent region 12211 [Gene]
  • LOC129935354:ATAC-STARR-seq lymphoblastoid silent region 12212 [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]
  • LOC126806456:BRD4-independent group 4 enhancer GRCh37_chr2:196652546-196653745 [Gene]
  • LOC126806457:BRD4-independent group 4 enhancer GRCh37_chr2:196722945-196724144 [Gene]
  • LOC126806460:BRD4-independent group 4 enhancer GRCh37_chr2:198299380-198300579 [Gene]
  • LOC126806458:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:197124217-197125416 [Gene]
  • LOC126806459:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:198051264-198052463 [Gene]
  • LOC126806461:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:198773623-198774822 [Gene]
  • HECW2:HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • HECW2-AS1:HECW2 antisense RNA 1 [Gene - HGNC]
  • HSPE1-MOB4:HSPE1-MOB4 readthrough [Gene - HGNC]
  • MOB4:MOB family member 4, phocein [Gene - OMIM - HGNC]
  • LOC129388980:MPRA-validated peak4000 silencer [Gene]
  • LOC112806069:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:196559503-196560702 [Gene]
  • LOC108353821:PLCL1 intron CAGE-defined T cell enhancer [Gene]
  • LOC122861274:Sharpr-MPRA regulatory region 13904 [Gene]
  • LOC112806071:Sharpr-MPRA regulatory region 14302 [Gene]
  • LOC112806070:Sharpr-MPRA regulatory region 6737 [Gene]
  • LOC122861275:Sharpr-MPRA regulatory region 7560 [Gene]
  • ANKRD44:ankyrin repeat domain 44 [Gene - HGNC]
  • BOLL:boule homolog, RNA binding protein [Gene - OMIM - HGNC]
  • C2orf66:chromosome 2 open reading frame 66 [Gene - HGNC]
  • COQ10B:coenzyme Q10B [Gene - OMIM - HGNC]
  • CCDC150:coiled-coil domain containing 150 [Gene - HGNC]
  • DNAH7:dynein axonemal heavy chain 7 [Gene - OMIM - HGNC]
  • GTF3C3:general transcription factor IIIC subunit 3 [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]
  • LINC01790:long intergenic non-protein coding RNA 1790 [Gene - HGNC]
  • LINC01825:long intergenic non-protein coding RNA 1825 [Gene - HGNC]
  • LINC01827:long intergenic non-protein coding RNA 1827 [Gene - HGNC]
  • LINC01923:long intergenic non-protein coding RNA 1923 [Gene - HGNC]
  • MARS2:methionyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • PLCL1:phospholipase C like 1 (inactive) [Gene - OMIM - HGNC]
  • PGAP1:post-GPI attachment to proteins inositol deacylase 1 [Gene - OMIM - HGNC]
  • RFTN2:raftlin family member 2 [Gene - OMIM - HGNC]
  • STK17B:serine/threonine kinase 17b [Gene - OMIM - HGNC]
  • SNORA105B:small nucleolar RNA, H/ACA box 105B [Gene - HGNC]
  • SLC39A10:solute carrier family 39 member 10 [Gene - OMIM - HGNC]
  • SF3B1:splicing factor 3b subunit 1 [Gene - OMIM - HGNC]
  • LOC100130452:uncharacterized LOC100130452 [Gene]
Variant type:
copy number loss
Cytogenetic location:
2q32.3-33.1
Genomic location:
Preferred name:
GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1
HGVS:
  • NC_000002.12:g.(?_194515159)_(198545937_?)del
  • NC_000002.10:g.(?_195088128)_(199118906_?)del
  • NC_000002.11:g.(?_195379883)_(199410661_?)del
Links:
dbVar: nssv577748; dbVar: nsv529642
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
SCV000078432ISCA 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, SCV000078432.5

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

Last Updated: May 7, 2024