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GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 10, 2014
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:
RCV000143725.5

Allele description [Variation Report for GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1]

GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1

Genes:
  • LOC129934654:ATAC-STARR-seq lymphoblastoid active region 16446 [Gene]
  • LOC129934658:ATAC-STARR-seq lymphoblastoid active region 16447 [Gene]
  • LOC129934659:ATAC-STARR-seq lymphoblastoid active region 16448 [Gene]
  • LOC129934660:ATAC-STARR-seq lymphoblastoid active region 16449 [Gene]
  • LOC129934662:ATAC-STARR-seq lymphoblastoid active region 16450 [Gene]
  • LOC129934663:ATAC-STARR-seq lymphoblastoid active region 16451 [Gene]
  • LOC129934666:ATAC-STARR-seq lymphoblastoid active region 16452 [Gene]
  • LOC129934673:ATAC-STARR-seq lymphoblastoid active region 16454 [Gene]
  • LOC129934676:ATAC-STARR-seq lymphoblastoid active region 16455 [Gene]
  • LOC129934678:ATAC-STARR-seq lymphoblastoid active region 16456 [Gene]
  • LOC129934679:ATAC-STARR-seq lymphoblastoid active region 16457 [Gene]
  • LOC129934680:ATAC-STARR-seq lymphoblastoid active region 16458 [Gene]
  • LOC129934682:ATAC-STARR-seq lymphoblastoid active region 16459 [Gene]
  • LOC129934683:ATAC-STARR-seq lymphoblastoid active region 16460 [Gene]
  • LOC129934684:ATAC-STARR-seq lymphoblastoid active region 16461 [Gene]
  • LOC129934687:ATAC-STARR-seq lymphoblastoid active region 16463 [Gene]
  • LOC129934688:ATAC-STARR-seq lymphoblastoid active region 16464 [Gene]
  • LOC129934690:ATAC-STARR-seq lymphoblastoid active region 16465 [Gene]
  • LOC129934691:ATAC-STARR-seq lymphoblastoid active region 16466 [Gene]
  • LOC129934692:ATAC-STARR-seq lymphoblastoid active region 16467 [Gene]
  • LOC129934693:ATAC-STARR-seq lymphoblastoid active region 16468 [Gene]
  • LOC129934650:ATAC-STARR-seq lymphoblastoid silent region 11897 [Gene]
  • LOC129934651:ATAC-STARR-seq lymphoblastoid silent region 11898 [Gene]
  • LOC129934652:ATAC-STARR-seq lymphoblastoid silent region 11899 [Gene]
  • LOC129934653:ATAC-STARR-seq lymphoblastoid silent region 11900 [Gene]
  • LOC129934655:ATAC-STARR-seq lymphoblastoid silent region 11901 [Gene]
  • LOC129934656:ATAC-STARR-seq lymphoblastoid silent region 11902 [Gene]
  • LOC129934657:ATAC-STARR-seq lymphoblastoid silent region 11903 [Gene]
  • LOC129934661:ATAC-STARR-seq lymphoblastoid silent region 11904 [Gene]
  • LOC129934664:ATAC-STARR-seq lymphoblastoid silent region 11905 [Gene]
  • LOC129934665:ATAC-STARR-seq lymphoblastoid silent region 11906 [Gene]
  • LOC129934667:ATAC-STARR-seq lymphoblastoid silent region 11907 [Gene]
  • LOC129934668:ATAC-STARR-seq lymphoblastoid silent region 11908 [Gene]
  • LOC129934669:ATAC-STARR-seq lymphoblastoid silent region 11909 [Gene]
  • LOC129934670:ATAC-STARR-seq lymphoblastoid silent region 11910 [Gene]
  • LOC129934671:ATAC-STARR-seq lymphoblastoid silent region 11911 [Gene]
  • LOC129934672:ATAC-STARR-seq lymphoblastoid silent region 11912 [Gene]
  • LOC129934674:ATAC-STARR-seq lymphoblastoid silent region 11914 [Gene]
  • LOC129934675:ATAC-STARR-seq lymphoblastoid silent region 11915 [Gene]
  • LOC129934677:ATAC-STARR-seq lymphoblastoid silent region 11916 [Gene]
  • LOC129934681:ATAC-STARR-seq lymphoblastoid silent region 11918 [Gene]
  • LOC129934685:ATAC-STARR-seq lymphoblastoid silent region 11919 [Gene]
  • LOC129934686:ATAC-STARR-seq lymphoblastoid silent region 11920 [Gene]
  • LOC129934689:ATAC-STARR-seq lymphoblastoid silent region 11922 [Gene]
  • LOC126806335:BRD4-independent group 4 enhancer GRCh37_chr2:121301087-121302286 [Gene]
  • LOC126806327:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:119711468-119712667 [Gene]
  • LOC126806333:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:120995479-120996678 [Gene]
  • LOC126806337:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:122187059-122188258 [Gene]
  • LOC115945186:CRISPRi-validated cis-regulatory element chr2.4272 [Gene]
  • LOC115945187:CRISPRi-validated cis-regulatory element chr2.4367 [Gene]
  • GLI2:GLI family zinc finger 2 [Gene - OMIM - HGNC]
  • LOC122819145:H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:119602243-119602892 and GRCh37_chr2:119602893-119603542 [Gene]
  • LOC126806328:MED14-independent group 3 enhancer GRCh37_chr2:119749973-119751172 [Gene]
  • LOC126806329:MED14-independent group 3 enhancer GRCh37_chr2:119807422-119808621 [Gene]
  • LOC126806331:MED14-independent group 3 enhancer GRCh37_chr2:119975074-119976273 [Gene]
  • LOC126806332:MED14-independent group 3 enhancer GRCh37_chr2:120457784-120458983 [Gene]
  • LOC126806334:MED14-independent group 3 enhancer GRCh37_chr2:121210803-121212002 [Gene]
  • LOC122819147:MED14-independent group 3 enhancer GRCh37_chr2:121426571-121427770 [Gene]
  • LOC129388903:MPRA-validated peak3833 silencer [Gene]
  • LOC129388904:MPRA-validated peak3834 silencer [Gene]
  • LOC132088751:Neanderthal introgressed variant-containing enhancer experimental_52581 [Gene]
  • LOC126806326:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:119671170-119672369 [Gene]
  • LOC126806330:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:119868745-119869944 [Gene]
  • LOC126806336:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:121692033-121693232 [Gene]
  • RALB:RAS like proto-oncogene B [Gene - OMIM - HGNC]
  • RNU4ATAC:RNA, U4atac small nuclear [Gene - OMIM - HGNC]
  • SCTR-AS1:SCTR antisense RNA 1 [Gene - HGNC]
  • STEAP3-AS1:STEAP3 antisense RNA 1 [Gene - HGNC]
  • STEAP3:STEAP3 metalloreductase [Gene - OMIM - HGNC]
  • LOC112806044:Sharpr-MPRA regulatory region 1201 [Gene]
  • LOC120961782:Sharpr-MPRA regulatory region 12882 [Gene]
  • LOC122819146:Sharpr-MPRA regulatory region 13360 [Gene]
  • LOC122819148:Sharpr-MPRA regulatory region 398 [Gene]
  • LOC112806043:Sharpr-MPRA regulatory region 5959 [Gene]
  • LOC120961781:Sharpr-MPRA regulatory region 6388 [Gene]
  • LOC110121228:VISTA enhancer hs1941 [Gene]
  • LOC110120692:VISTA enhancer hs522 [Gene]
  • C2orf76:chromosome 2 open reading frame 76 [Gene - HGNC]
  • CFAP221:cilia and flagella associated protein 221 [Gene - OMIM - HGNC]
  • C1QL2:complement C1q like 2 [Gene - OMIM - HGNC]
  • CLASP1:cytoplasmic linker associated protein 1 [Gene - OMIM - HGNC]
  • DBI:diazepam binding inhibitor, acyl-CoA binding protein [Gene - OMIM - HGNC]
  • EN1:engrailed homeobox 1 [Gene - OMIM - HGNC]
  • EPB41L5:erythrocyte membrane protein band 4.1 like 5 [Gene - OMIM - HGNC]
  • INHBB:inhibin subunit beta B [Gene - OMIM - HGNC]
  • LINC01101:long intergenic non-protein coding RNA 1101 [Gene - HGNC]
  • LINC01956:long intergenic non-protein coding RNA 1956 [Gene - HGNC]
  • MARCO:macrophage receptor with collagenous structure [Gene - OMIM - HGNC]
  • PTPN4:protein tyrosine phosphatase non-receptor type 4 [Gene - OMIM - HGNC]
  • SCTR:secretin receptor [Gene - OMIM - HGNC]
  • TFCP2L1:transcription factor CP2 like 1 [Gene - OMIM - HGNC]
  • TMEM177:transmembrane protein 177 [Gene - OMIM - HGNC]
  • TMEM185B:transmembrane protein 185B [Gene - HGNC]
  • TMEM37:transmembrane protein 37 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q14.2-14.3
Genomic location:
Preferred name:
GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1
HGVS:
  • NC_000002.12:g.(?_118687829)_(121621814_?)del
  • NC_000002.10:g.(?_119161875)_(122095860_?)del
  • NC_000002.11:g.(?_119445405)_(122379390_?)del
Links:
dbVar: nssv3395313; dbVar: nsv996135
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
SCV000183565ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Mar 10, 2014) 		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, SCV000183565.4

#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