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GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 27, 2010
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:
RCV000142513.6

Allele description [Variation Report for GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1]

GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1

Genes:
  • ANKRD44-AS1:ANKRD44 antisense RNA 1 [Gene - HGNC]
  • ANKRD44-IT1:ANKRD44 intronic transcript 1 [Gene - HGNC]
  • 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]
  • 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]
  • LOC129935375:ATAC-STARR-seq lymphoblastoid silent region 12219 [Gene]
  • LOC129935376:ATAC-STARR-seq lymphoblastoid silent region 12220 [Gene]
  • LOC126806460:BRD4-independent group 4 enhancer GRCh37_chr2:198299380-198300579 [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]
  • HSPE1-MOB4:HSPE1-MOB4 readthrough [Gene - HGNC]
  • LOC126806462:MED14-independent group 3 enhancer GRCh37_chr2:200136608-200137807 [Gene]
  • MOB4:MOB family member 4, phocein [Gene - OMIM - HGNC]
  • LOC108353821:PLCL1 intron CAGE-defined T cell enhancer [Gene]
  • SATB2:SATB homeobox 2 [Gene - OMIM - HGNC]
  • SATB2-AS1:SATB2 antisense RNA 1 [Gene - HGNC]
  • LOC122861274:Sharpr-MPRA regulatory region 13904 [Gene]
  • LOC112806071:Sharpr-MPRA regulatory region 14302 [Gene]
  • LOC112806073:Sharpr-MPRA regulatory region 6083 [Gene]
  • LOC122861275:Sharpr-MPRA regulatory region 7560 [Gene]
  • ANKRD44:ankyrin repeat domain 44 [Gene - HGNC]
  • BOLL:boule homolog, RNA binding protein [Gene - OMIM - HGNC]
  • COQ10B:coenzyme Q10B [Gene - OMIM - HGNC]
  • FTCDNL1:formiminotransferase cyclodeaminase N-terminal like [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]
  • LINC01877:long intergenic non-protein coding RNA 1877 [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]
  • RFTN2:raftlin family member 2 [Gene - OMIM - HGNC]
  • SNORA105B:small nucleolar RNA, H/ACA box 105B [Gene - HGNC]
  • SF3B1:splicing factor 3b subunit 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1
HGVS:
  • NC_000002.12:g.(?_197125460)_(199741748_?)del
  • NC_000002.10:g.(?_197698429)_(200314716_?)del
  • NC_000002.11:g.(?_197990184)_(200606471_?)del
Links:
dbVar: nssv584358; dbVar: nsv497990
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
SCV000174508ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 27, 2010) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000174508.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024