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GRCh38/hg38 2p23.1(chr2:29907153-30845898)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000136571.5

Allele description [Variation Report for GRCh38/hg38 2p23.1(chr2:29907153-30845898)x3]

GRCh38/hg38 2p23.1(chr2:29907153-30845898)x3

Genes:
  • ALK:ALK receptor tyrosine kinase [Gene - OMIM - HGNC]
  • LOC129933417:ATAC-STARR-seq lymphoblastoid active region 15532 [Gene]
  • LOC129933422:ATAC-STARR-seq lymphoblastoid active region 15533 [Gene]
  • LOC129933423:ATAC-STARR-seq lymphoblastoid active region 15534 [Gene]
  • LOC129933427:ATAC-STARR-seq lymphoblastoid active region 15535 [Gene]
  • LOC129933428:ATAC-STARR-seq lymphoblastoid active region 15536 [Gene]
  • LOC129933429:ATAC-STARR-seq lymphoblastoid active region 15537 [Gene]
  • LOC129933430:ATAC-STARR-seq lymphoblastoid active region 15538 [Gene]
  • LOC129933431:ATAC-STARR-seq lymphoblastoid active region 15539 [Gene]
  • LOC129933432:ATAC-STARR-seq lymphoblastoid active region 15540 [Gene]
  • LOC129933433:ATAC-STARR-seq lymphoblastoid active region 15541 [Gene]
  • LOC129933434:ATAC-STARR-seq lymphoblastoid active region 15542 [Gene]
  • LOC129933435:ATAC-STARR-seq lymphoblastoid active region 15543 [Gene]
  • LOC129933436:ATAC-STARR-seq lymphoblastoid active region 15544 [Gene]
  • LOC129933437:ATAC-STARR-seq lymphoblastoid active region 15548 [Gene]
  • LOC129933418:ATAC-STARR-seq lymphoblastoid silent region 11321 [Gene]
  • LOC129933419:ATAC-STARR-seq lymphoblastoid silent region 11322 [Gene]
  • LOC129933420:ATAC-STARR-seq lymphoblastoid silent region 11323 [Gene]
  • LOC129933421:ATAC-STARR-seq lymphoblastoid silent region 11324 [Gene]
  • LOC129933424:ATAC-STARR-seq lymphoblastoid silent region 11326 [Gene]
  • LOC129933425:ATAC-STARR-seq lymphoblastoid silent region 11327 [Gene]
  • LOC129933426:ATAC-STARR-seq lymphoblastoid silent region 11328 [Gene]
  • LOC129933438:ATAC-STARR-seq lymphoblastoid silent region 11329 [Gene]
  • LOC126806182:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:30440807-30442006 [Gene]
  • LBH:LBH regulator of WNT signaling pathway [Gene - OMIM - HGNC]
  • LOC129388838:MPRA-validated peak3643 silencer [Gene]
  • LOC122756685:Sharpr-MPRA regulatory region 12598 [Gene]
  • LOC122756686:Sharpr-MPRA regulatory region 4877 [Gene]
  • CAPN13:calpain 13 [Gene - OMIM - HGNC]
  • LINC01936:long intergenic non-protein coding RNA 1936 [Gene - HGNC]
  • LCLAT1:lysocardiolipin acyltransferase 1 [Gene - OMIM - HGNC]
  • SNORA10B:small nucleolar RNA, H/ACA box 10B [Gene - HGNC]
  • YPEL5:yippee like 5 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2p23.1
Genomic location:
Preferred name:
GRCh38/hg38 2p23.1(chr2:29907153-30845898)x3
HGVS:
  • NC_000002.12:g.(?_29907153)_(30845898_?)dup
  • NC_000002.10:g.(?_29983523)_(30922268_?)dup
  • NC_000002.11:g.(?_30130019)_(31068764_?)dup
Links:
dbVar: nssv583044; dbVar: nsv533886
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
SCV000176657ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000176657.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024