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GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 9, 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:
RCV000138295.6

Allele description [Variation Report for GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1]

GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1

Genes:
  • ASXL3:ASXL transcriptional regulator 3 [Gene - OMIM - HGNC]
  • LOC130062359:ATAC-STARR-seq lymphoblastoid active region 13213 [Gene]
  • LOC130062362:ATAC-STARR-seq lymphoblastoid active region 13214 [Gene]
  • LOC130062363:ATAC-STARR-seq lymphoblastoid active region 13215 [Gene]
  • LOC130062365:ATAC-STARR-seq lymphoblastoid active region 13216 [Gene]
  • LOC130062366:ATAC-STARR-seq lymphoblastoid active region 13217 [Gene]
  • LOC130062368:ATAC-STARR-seq lymphoblastoid active region 13218 [Gene]
  • LOC130062369:ATAC-STARR-seq lymphoblastoid active region 13219 [Gene]
  • LOC130062370:ATAC-STARR-seq lymphoblastoid active region 13220 [Gene]
  • LOC130062371:ATAC-STARR-seq lymphoblastoid active region 13222 [Gene]
  • LOC130062372:ATAC-STARR-seq lymphoblastoid active region 13223 [Gene]
  • LOC130062376:ATAC-STARR-seq lymphoblastoid active region 13224 [Gene]
  • LOC130062377:ATAC-STARR-seq lymphoblastoid active region 13225 [Gene]
  • LOC130062378:ATAC-STARR-seq lymphoblastoid active region 13226 [Gene]
  • LOC130062380:ATAC-STARR-seq lymphoblastoid active region 13227 [Gene]
  • LOC130062381:ATAC-STARR-seq lymphoblastoid active region 13228 [Gene]
  • LOC130062382:ATAC-STARR-seq lymphoblastoid active region 13229 [Gene]
  • LOC130062383:ATAC-STARR-seq lymphoblastoid active region 13230 [Gene]
  • LOC130062384:ATAC-STARR-seq lymphoblastoid active region 13231 [Gene]
  • LOC130062386:ATAC-STARR-seq lymphoblastoid active region 13236 [Gene]
  • LOC130062387:ATAC-STARR-seq lymphoblastoid active region 13237 [Gene]
  • LOC130062388:ATAC-STARR-seq lymphoblastoid active region 13238 [Gene]
  • LOC130062390:ATAC-STARR-seq lymphoblastoid active region 13239 [Gene]
  • LOC130062391:ATAC-STARR-seq lymphoblastoid active region 13240 [Gene]
  • LOC130062392:ATAC-STARR-seq lymphoblastoid active region 13241 [Gene]
  • LOC130062393:ATAC-STARR-seq lymphoblastoid active region 13242 [Gene]
  • LOC130062394:ATAC-STARR-seq lymphoblastoid active region 13243 [Gene]
  • LOC130062360:ATAC-STARR-seq lymphoblastoid silent region 9391 [Gene]
  • LOC130062361:ATAC-STARR-seq lymphoblastoid silent region 9392 [Gene]
  • LOC130062364:ATAC-STARR-seq lymphoblastoid silent region 9393 [Gene]
  • LOC130062367:ATAC-STARR-seq lymphoblastoid silent region 9394 [Gene]
  • LOC130062373:ATAC-STARR-seq lymphoblastoid silent region 9396 [Gene]
  • LOC130062374:ATAC-STARR-seq lymphoblastoid silent region 9398 [Gene]
  • LOC130062375:ATAC-STARR-seq lymphoblastoid silent region 9399 [Gene]
  • LOC130062379:ATAC-STARR-seq lymphoblastoid silent region 9400 [Gene]
  • LOC130062385:ATAC-STARR-seq lymphoblastoid silent region 9404 [Gene]
  • LOC130062389:ATAC-STARR-seq lymphoblastoid silent region 9405 [Gene]
  • LOC130062395:ATAC-STARR-seq lymphoblastoid silent region 9407 [Gene]
  • LOC126862726:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:33058203-33059402 [Gene]
  • LOC126862727:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:33564018-33565217 [Gene]
  • CELF4:CUGBP Elav-like family member 4 [Gene - OMIM - HGNC]
  • LOC111501775:GATA motif-containing MPRA enhancer 294 [Gene]
  • INO80C:INO80 complex subunit C [Gene - HGNC]
  • KIAA1328:KIAA1328 [Gene - OMIM - HGNC]
  • LOC126862724:MED14-independent group 3 enhancer GRCh37_chr18:31003580-31004779 [Gene]
  • LOC129390985:MPRA-validated peak3116 silencer [Gene]
  • LOC129390986:MPRA-validated peak3117 silencer [Gene]
  • LOC129390987:MPRA-validated peak3119 silencer [Gene]
  • LOC126862725:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:32558231-32559430 [Gene]
  • LOC121852965:Sharpr-MPRA regulatory region 10371 [Gene]
  • LOC125371409:Sharpr-MPRA regulatory region 1146 [Gene]
  • LOC125368560:Sharpr-MPRA regulatory region 11937 [Gene]
  • LOC121627829:Sharpr-MPRA regulatory region 13825 [Gene]
  • LOC125371407:Sharpr-MPRA regulatory region 14792 [Gene]
  • LOC125371408:Sharpr-MPRA regulatory region 15530 [Gene]
  • LOC113939964:Sharpr-MPRA regulatory region 2053 [Gene]
  • LOC125371406:Sharpr-MPRA regulatory region 2105 [Gene]
  • LOC112543421:Sharpr-MPRA regulatory region 7107 [Gene]
  • LOC121627828:Sharpr-MPRA regulatory region 729 [Gene]
  • LOC121852966:Sharpr-MPRA regulatory region 7575 [Gene]
  • LOC110120900:VISTA enhancer hs590 [Gene]
  • ZNF24TR:ZNF24 transcription regulator [Gene - HGNC]
  • COSMOC:cell fate and sterol metabolism associated divergent transcript of MOCOS [Gene - HGNC]
  • C18orf21:chromosome 18 open reading frame 21 [Gene - HGNC]
  • CCDC178:coiled-coil domain containing 178 [Gene - HGNC]
  • DTNA:dystrobrevin alpha [Gene - OMIM - HGNC]
  • ELP2:elongator acetyltransferase complex subunit 2 [Gene - OMIM - HGNC]
  • FHOD3:formin homology 2 domain containing 3 [Gene - OMIM - HGNC]
  • MIR187:microRNA 187 [Gene - OMIM - HGNC]
  • MIR3929:microRNA 3929 [Gene - HGNC]
  • MIR3975:microRNA 3975 [Gene - HGNC]
  • MAPRE2:microtubule associated protein RP/EB family member 2 [Gene - OMIM - HGNC]
  • MOCOS:molybdenum cofactor sulfurase [Gene - OMIM - HGNC]
  • NOL4:nucleolar protein 4 [Gene - OMIM - HGNC]
  • GALNT1:polypeptide N-acetylgalactosaminyltransferase 1 [Gene - OMIM - HGNC]
  • RPRD1A:regulation of nuclear pre-mRNA domain containing 1A [Gene - OMIM - HGNC]
  • SLC39A6:solute carrier family 39 member 6 [Gene - OMIM - HGNC]
  • TPGS2:tubulin polyglutamylase complex subunit 2 [Gene - OMIM - HGNC]
  • LOC105372066:uncharacterized LOC105372066 [Gene]
  • LOC105372068:uncharacterized LOC105372068 [Gene]
  • LOC105372069:uncharacterized LOC105372069 [Gene]
  • LOC105372071:uncharacterized LOC105372071 [Gene]
  • ZSCAN30:zinc finger and SCAN domain containing 30 [Gene - HGNC]
  • ZNF24:zinc finger protein 24 [Gene - OMIM - HGNC]
  • ZNF396:zinc finger protein 396 [Gene - OMIM - HGNC]
  • ZNF397:zinc finger protein 397 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
18q12.1-12.2
Genomic location:
Preferred name:
GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1
HGVS:
  • NC_000018.10:g.(?_33373798)_(37364748_?)del
  • NC_000018.8:g.(?_29207760)_(33198709_?)del
  • NC_000018.9:g.(?_30953762)_(34944711_?)del
Links:
dbVar: nssv1495767; dbVar: nsv869504
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
SCV000178569ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Apr 9, 2012) 		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, SCV000178569.4

#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