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GRCh38/hg38 3p26.3-26.2(chr3:20213-3244317)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 2013
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:
RCV000143693.5

Allele description [Variation Report for GRCh38/hg38 3p26.3-26.2(chr3:20213-3244317)x1]

GRCh38/hg38 3p26.3-26.2(chr3:20213-3244317)x1

Genes:
  • LOC129936036:ATAC-STARR-seq lymphoblastoid active region 19334 [Gene]
  • LOC129936037:ATAC-STARR-seq lymphoblastoid active region 19335 [Gene]
  • LOC129936038:ATAC-STARR-seq lymphoblastoid active region 19336 [Gene]
  • LOC129936039:ATAC-STARR-seq lymphoblastoid active region 19337 [Gene]
  • LOC129936040:ATAC-STARR-seq lymphoblastoid active region 19338 [Gene]
  • LOC129936041:ATAC-STARR-seq lymphoblastoid active region 19339 [Gene]
  • LOC129936042:ATAC-STARR-seq lymphoblastoid active region 19340 [Gene]
  • LOC129936043:ATAC-STARR-seq lymphoblastoid active region 19342 [Gene]
  • LOC129936046:ATAC-STARR-seq lymphoblastoid active region 19343 [Gene]
  • LOC129936049:ATAC-STARR-seq lymphoblastoid active region 19345 [Gene]
  • LOC129936035:ATAC-STARR-seq lymphoblastoid silent region 14006 [Gene]
  • LOC129936044:ATAC-STARR-seq lymphoblastoid silent region 14007 [Gene]
  • LOC129936045:ATAC-STARR-seq lymphoblastoid silent region 14008 [Gene]
  • LOC129936047:ATAC-STARR-seq lymphoblastoid silent region 14009 [Gene]
  • LOC129936048:ATAC-STARR-seq lymphoblastoid silent region 14010 [Gene]
  • LOC126806587:BRD4-independent group 4 enhancer GRCh37_chr3:1277185-1278384 [Gene]
  • LOC126806588:BRD4-independent group 4 enhancer GRCh37_chr3:3079797-3080996 [Gene]
  • LOC126806585:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:118683-119882 [Gene]
  • CHL1-AS1:CHL1 antisense RNA 1 [Gene - HGNC]
  • CHL1-AS2:CHL1 antisense RNA 2 [Gene - HGNC]
  • CNTN4-AS1:CNTN4 antisense RNA 1 [Gene - HGNC]
  • CNTN4-AS2:CNTN4 antisense RNA 2 [Gene - HGNC]
  • LOC111429626:FOXA motif-containing MPRA enhancer 226 [Gene]
  • LOC126806586:MED14-independent group 3 enhancer GRCh37_chr3:152955-154154 [Gene]
  • LOC129389017:MPRA-validated peak4526 silencer [Gene]
  • LOC132088944:Neanderthal introgressed variant-containing enhancer experimental_68491 [Gene]
  • LOC132088949:Neanderthal introgressed variant-containing enhancer experimental_68954 [Gene]
  • LOC132088954:Neanderthal introgressed variant-containing enhancer experimental_69430 [Gene]
  • LOC122889017:Sharpr-MPRA regulatory region 9777 [Gene]
  • CHL1:cell adhesion molecule L1 like [Gene - OMIM - HGNC]
  • CRBN:cereblon [Gene - OMIM - HGNC]
  • CNTN4:contactin 4 [Gene - OMIM - HGNC]
  • CNTN6:contactin 6 [Gene - OMIM - HGNC]
  • IL5RA:interleukin 5 receptor subunit alpha [Gene - OMIM - HGNC]
  • LINC01266:long intergenic non-protein coding RNA 1266 [Gene - HGNC]
  • LINC01986:long intergenic non-protein coding RNA 1986 [Gene - HGNC]
  • LOC107522035:meiotic recombination hotspot S [Gene]
  • LOC107522028:meiotic recombination hotspot T [Gene]
  • TRNT1:tRNA nucleotidyl transferase 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3p26.3-26.2
Genomic location:
Preferred name:
GRCh38/hg38 3p26.3-26.2(chr3:20213-3244317)x1
HGVS:
  • NC_000003.12:g.(?_20213)_(3244317_?)del
  • NC_000003.10:g.(?_36891)_(3261001_?)del
  • NC_000003.11:g.(?_61891)_(3286001_?)del
Links:
dbVar: nssv3397450; dbVar: nsv996052
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
SCV000183481ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 3, 2013) 		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, SCV000183481.4

#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