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GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2011
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:
RCV000139468.6

Allele description [Variation Report for GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3]

GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3

Genes:
  • LOC129934831:ATAC-STARR-seq lymphoblastoid active region 16570 [Gene]
  • LOC129934832:ATAC-STARR-seq lymphoblastoid active region 16571 [Gene]
  • LOC129934833:ATAC-STARR-seq lymphoblastoid active region 16572 [Gene]
  • LOC129934830:ATAC-STARR-seq lymphoblastoid silent region 11980 [Gene]
  • LOC129934834:ATAC-STARR-seq lymphoblastoid silent region 11981 [Gene]
  • LOC111562379:HNF4 motif-containing MPRA enhancer 203 [Gene]
  • LOC129388921:MPRA-validated peak3873 silencer [Gene]
  • LOC129388922:MPRA-validated peak3875 silencer [Gene]
  • R3HDM1:R3H domain containing 1 [Gene - OMIM - HGNC]
  • RAB3GAP1:RAB3 GTPase activating protein catalytic subunit 1 [Gene - OMIM - HGNC]
  • LOC122819159:Sharpr-MPRA regulatory region 426 [Gene]
  • LOC120961786:Sharpr-MPRA regulatory region 5980 [Gene]
  • CCNT2:cyclin T2 [Gene - OMIM - HGNC]
  • MAP3K19:mitogen-activated protein kinase kinase kinase 19 [Gene - HGNC]
  • SNORA40B:small nucleolar RNA, H/ACA box 40B [Gene - HGNC]
  • ZRANB3:zinc finger RANBP2-type containing 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q21.3
Genomic location:
Preferred name:
GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3
HGVS:
  • NC_000002.12:g.(?_134950277)_(135611818_?)dup
  • NC_000002.10:g.(?_135424317)_(136085858_?)dup
  • NC_000002.11:g.(?_135707847)_(136369388_?)dup
Links:
dbVar: nssv1604124; dbVar: nsv916931
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
SCV000180024ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 2, 2011) 		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, SCV000180024.4

#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