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GRCh38/hg38 18p11.32(chr18:148963-1413685)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
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:
RCV000142370.4

Allele description [Variation Report for GRCh38/hg38 18p11.32(chr18:148963-1413685)x1]

GRCh38/hg38 18p11.32(chr18:148963-1413685)x1

Genes:
  • LOC130062072:ATAC-STARR-seq lymphoblastoid active region 13019 [Gene]
  • LOC130062074:ATAC-STARR-seq lymphoblastoid active region 13020 [Gene]
  • LOC130062077:ATAC-STARR-seq lymphoblastoid active region 13022 [Gene]
  • LOC130062070:ATAC-STARR-seq lymphoblastoid silent region 9236 [Gene]
  • LOC130062071:ATAC-STARR-seq lymphoblastoid silent region 9237 [Gene]
  • LOC130062073:ATAC-STARR-seq lymphoblastoid silent region 9238 [Gene]
  • LOC130062075:ATAC-STARR-seq lymphoblastoid silent region 9239 [Gene]
  • LOC130062076:ATAC-STARR-seq lymphoblastoid silent region 9242 [Gene]
  • LOC130062078:ATAC-STARR-seq lymphoblastoid silent region 9243 [Gene]
  • LOC130062079:ATAC-STARR-seq lymphoblastoid silent region 9244 [Gene]
  • LOC126862675:BRD4-independent group 4 enhancer GRCh37_chr18:394012-395211 [Gene]
  • LOC126862677:MED14-independent group 3 enhancer GRCh37_chr18:1011056-1012255 [Gene]
  • LOC126862676:MED14-independent group 3 enhancer GRCh37_chr18:641155-642354 [Gene]
  • LOC129390951:MPRA-validated peak3036 silencer [Gene]
  • LOC129390952:MPRA-validated peak3040 silencer [Gene]
  • LOC112543431:Sharpr-MPRA regulatory region 12053 [Gene]
  • LOC125338461:Sharpr-MPRA regulatory region 14540 [Gene]
  • LOC125338459:Sharpr-MPRA regulatory region 14658 [Gene]
  • LOC112538442:Sharpr-MPRA regulatory region 5202 [Gene]
  • LOC125338460:Sharpr-MPRA regulatory region 6782 [Gene]
  • THOC1:THO complex subunit 1 [Gene - OMIM - HGNC]
  • TYMSOS:TYMS opposite strand RNA [Gene - HGNC]
  • YES1:YES proto-oncogene 1, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • ADCYAP1:adenylate cyclase activating polypeptide 1 [Gene - OMIM - HGNC]
  • CETN1:centrin 1 [Gene - OMIM - HGNC]
  • CLUL1:clusterin like 1 [Gene - OMIM - HGNC]
  • COLEC12:collectin subfamily member 12 [Gene - OMIM - HGNC]
  • ENOSF1:enolase superfamily member 1 [Gene - OMIM - HGNC]
  • LINC01904:long intergenic non-protein coding RNA 1904 [Gene - HGNC]
  • LINC01925:long intergenic non-protein coding RNA 1925 [Gene - HGNC]
  • LINC00470:long intergenic non-protein coding RNA 470 [Gene - HGNC]
  • TYMS:thymidylate synthetase [Gene - OMIM - HGNC]
  • USP14:ubiquitin specific peptidase 14 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
18p11.32
Genomic location:
Preferred name:
GRCh38/hg38 18p11.32(chr18:148963-1413685)x1
HGVS:
  • NC_000018.10:g.(?_148963)_(1413685_?)del
  • NC_000018.8:g.(?_138963)_(1403686_?)del
  • NC_000018.9:g.(?_148963)_(1413686_?)del
Links:
dbVar: nssv3395510; dbVar: nsv996296
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
SCV000183725ISCA site 14

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical 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 14, SCV000183725.3

#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