U.S. flag

An official website of the United States government

GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 21, 2012
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:
RCV000142963.4

Allele description

GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1

Genes:
  • LOC129934938:ATAC-STARR-seq lymphoblastoid active region 16657 [Gene]
  • LOC129934940:ATAC-STARR-seq lymphoblastoid active region 16658 [Gene]
  • LOC129934942:ATAC-STARR-seq lymphoblastoid active region 16659 [Gene]
  • LOC129934944:ATAC-STARR-seq lymphoblastoid active region 16661 [Gene]
  • LOC129934945:ATAC-STARR-seq lymphoblastoid active region 16662 [Gene]
  • LOC129934946:ATAC-STARR-seq lymphoblastoid active region 16663 [Gene]
  • LOC129934950:ATAC-STARR-seq lymphoblastoid active region 16664 [Gene]
  • LOC129934952:ATAC-STARR-seq lymphoblastoid active region 16665 [Gene]
  • LOC129934953:ATAC-STARR-seq lymphoblastoid active region 16666 [Gene]
  • LOC129934954:ATAC-STARR-seq lymphoblastoid active region 16667 [Gene]
  • LOC129934955:ATAC-STARR-seq lymphoblastoid active region 16668 [Gene]
  • LOC129934956:ATAC-STARR-seq lymphoblastoid active region 16669 [Gene]
  • LOC129934960:ATAC-STARR-seq lymphoblastoid active region 16670 [Gene]
  • LOC129934961:ATAC-STARR-seq lymphoblastoid active region 16671 [Gene]
  • LOC129934962:ATAC-STARR-seq lymphoblastoid active region 16672 [Gene]
  • LOC129934963:ATAC-STARR-seq lymphoblastoid active region 16673 [Gene]
  • LOC129934964:ATAC-STARR-seq lymphoblastoid active region 16674 [Gene]
  • LOC129934965:ATAC-STARR-seq lymphoblastoid active region 16675 [Gene]
  • LOC129934967:ATAC-STARR-seq lymphoblastoid active region 16676 [Gene]
  • LOC129934968:ATAC-STARR-seq lymphoblastoid active region 16677 [Gene]
  • LOC129934969:ATAC-STARR-seq lymphoblastoid active region 16678 [Gene]
  • LOC129934939:ATAC-STARR-seq lymphoblastoid silent region 12015 [Gene]
  • LOC129934941:ATAC-STARR-seq lymphoblastoid silent region 12016 [Gene]
  • LOC129934943:ATAC-STARR-seq lymphoblastoid silent region 12018 [Gene]
  • LOC129934947:ATAC-STARR-seq lymphoblastoid silent region 12019 [Gene]
  • LOC129934948:ATAC-STARR-seq lymphoblastoid silent region 12020 [Gene]
  • LOC129934949:ATAC-STARR-seq lymphoblastoid silent region 12021 [Gene]
  • LOC129934951:ATAC-STARR-seq lymphoblastoid silent region 12022 [Gene]
  • LOC129934957:ATAC-STARR-seq lymphoblastoid silent region 12024 [Gene]
  • LOC129934958:ATAC-STARR-seq lymphoblastoid silent region 12025 [Gene]
  • LOC129934959:ATAC-STARR-seq lymphoblastoid silent region 12026 [Gene]
  • LOC129934966:ATAC-STARR-seq lymphoblastoid silent region 12027 [Gene]
  • LOC129934970:ATAC-STARR-seq lymphoblastoid silent region 12028 [Gene]
  • LOC129934971:ATAC-STARR-seq lymphoblastoid silent region 12029 [Gene]
  • LOC129934972:ATAC-STARR-seq lymphoblastoid silent region 12030 [Gene]
  • LOC129934973:ATAC-STARR-seq lymphoblastoid silent region 12031 [Gene]
  • LOC129934974:ATAC-STARR-seq lymphoblastoid silent region 12034 [Gene]
  • LOC126806381:BRD4-independent group 4 enhancer GRCh37_chr2:155097618-155098817 [Gene]
  • LOC126806387:BRD4-independent group 4 enhancer GRCh37_chr2:158590437-158591636 [Gene]
  • CCDC148-AS1:CCDC148 antisense RNA 1 [Gene - HGNC]
  • LOC126806382:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:155956194-155957393 [Gene]
  • LOC126806386:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:158320283-158321482 [Gene]
  • GALNT13-AS1:GALNT13 antisense RNA 1 [Gene - HGNC]
  • LOC111556122:HNF1 motif-containing MPRA enhancer 37 [Gene]
  • LOC126806383:MED14-independent group 3 enhancer GRCh37_chr2:156087204-156088403 [Gene]
  • LOC126806384:MED14-independent group 3 enhancer GRCh37_chr2:156939984-156941183 [Gene]
  • LOC126806388:MED14-independent group 3 enhancer GRCh37_chr2:158694657-158695856 [Gene]
  • LOC126806389:MED14-independent group 3 enhancer GRCh37_chr2:158969881-158971080 [Gene]
  • LOC129388933:MPRA-validated peak3904 silencer [Gene]
  • LOC129388934:MPRA-validated peak3905 silencer [Gene]
  • LOC129388935:MPRA-validated peak3906 silencer [Gene]
  • LOC132088761:Neanderthal introgressed variant-containing enhancer experimental_53336 [Gene]
  • LOC126806385:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:158102473-158103672 [Gene]
  • LOC122847298:Sharpr-MPRA regulatory region 11721 [Gene]
  • LOC121725105:Sharpr-MPRA regulatory region 13798 [Gene]
  • LOC110120673:VISTA enhancer hs411 [Gene]
  • LOC110120674:VISTA enhancer hs413 [Gene]
  • LOC110120675:VISTA enhancer hs415 [Gene]
  • LOC110120708:VISTA enhancer hs573 [Gene]
  • LOC110120710:VISTA enhancer hs580 [Gene]
  • LOC110120736:VISTA enhancer hs662 [Gene]
  • ACVR1:activin A receptor type 1 [Gene - OMIM - HGNC]
  • ACVR1C:activin A receptor type 1C [Gene - OMIM - HGNC]
  • CCDC148:coiled-coil domain containing 148 [Gene - HGNC]
  • CYTIP:cytohesin 1 interacting protein [Gene - OMIM - HGNC]
  • ERMN:ermin [Gene - OMIM - HGNC]
  • GPD2:glycerol-3-phosphate dehydrogenase 2 [Gene - OMIM - HGNC]
  • LINC01876:long intergenic non-protein coding RNA 1876 [Gene - HGNC]
  • NR4A2:nuclear receptor subfamily 4 group A member 2 [Gene - OMIM - HGNC]
  • GALNT13:polypeptide N-acetylgalactosaminyltransferase 13 [Gene - OMIM - HGNC]
  • GALNT5:polypeptide N-acetylgalactosaminyltransferase 5 [Gene - OMIM - HGNC]
  • KCNJ3:potassium inwardly rectifying channel subfamily J member 3 [Gene - OMIM - HGNC]
  • TRA-CGC3-1:tRNA-Ala (anticodon CGC) 3-1 [Gene - HGNC]
  • TRG-GCC2-2:tRNA-Gly (anticodon GCC) 2-2 [Gene - HGNC]
  • FLJ46875:uncharacterized LOC440918 [Gene]
  • UPP2:uridine phosphorylase 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q23.3-24.1
Genomic location:
Preferred name:
GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1
HGVS:
  • NC_000002.12:g.(?_153609714)_(158185125_?)del
  • NC_000002.10:g.(?_154174473)_(158749883_?)del
  • NC_000002.11:g.(?_154466227)_(159041637_?)del
Links:
dbVar: nssv1602827; dbVar: nsv916435
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000179562ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 21, 2012) 		not providedclinical 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 4, SCV000179562.3

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

Last Updated: Oct 14, 2023