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GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 30, 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:
RCV000141174.3

Allele description [Variation Report for GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3]

GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3

Genes:
  • LOC130006028:ATAC-STARR-seq lymphoblastoid active region 4987 [Gene]
  • LOC130006035:ATAC-STARR-seq lymphoblastoid active region 4988 [Gene]
  • LOC130006036:ATAC-STARR-seq lymphoblastoid active region 4989 [Gene]
  • LOC130006039:ATAC-STARR-seq lymphoblastoid active region 4990 [Gene]
  • LOC130006045:ATAC-STARR-seq lymphoblastoid active region 4994 [Gene]
  • LOC130006046:ATAC-STARR-seq lymphoblastoid active region 4995 [Gene]
  • LOC130006047:ATAC-STARR-seq lymphoblastoid active region 4996 [Gene]
  • LOC130006050:ATAC-STARR-seq lymphoblastoid active region 4997 [Gene]
  • LOC130006052:ATAC-STARR-seq lymphoblastoid active region 4998 [Gene]
  • LOC130006053:ATAC-STARR-seq lymphoblastoid active region 4999 [Gene]
  • LOC130006056:ATAC-STARR-seq lymphoblastoid active region 5000 [Gene]
  • LOC130006026:ATAC-STARR-seq lymphoblastoid silent region 3529 [Gene]
  • LOC130006027:ATAC-STARR-seq lymphoblastoid silent region 3530 [Gene]
  • LOC130006029:ATAC-STARR-seq lymphoblastoid silent region 3532 [Gene]
  • LOC130006030:ATAC-STARR-seq lymphoblastoid silent region 3533 [Gene]
  • LOC130006031:ATAC-STARR-seq lymphoblastoid silent region 3534 [Gene]
  • LOC130006032:ATAC-STARR-seq lymphoblastoid silent region 3535 [Gene]
  • LOC130006033:ATAC-STARR-seq lymphoblastoid silent region 3537 [Gene]
  • LOC130006034:ATAC-STARR-seq lymphoblastoid silent region 3538 [Gene]
  • LOC130006037:ATAC-STARR-seq lymphoblastoid silent region 3539 [Gene]
  • LOC130006038:ATAC-STARR-seq lymphoblastoid silent region 3540 [Gene]
  • LOC130006040:ATAC-STARR-seq lymphoblastoid silent region 3541 [Gene]
  • LOC130006041:ATAC-STARR-seq lymphoblastoid silent region 3542 [Gene]
  • LOC130006042:ATAC-STARR-seq lymphoblastoid silent region 3543 [Gene]
  • LOC130006043:ATAC-STARR-seq lymphoblastoid silent region 3544 [Gene]
  • LOC130006044:ATAC-STARR-seq lymphoblastoid silent region 3545 [Gene]
  • LOC130006048:ATAC-STARR-seq lymphoblastoid silent region 3546 [Gene]
  • LOC130006049:ATAC-STARR-seq lymphoblastoid silent region 3547 [Gene]
  • LOC130006051:ATAC-STARR-seq lymphoblastoid silent region 3548 [Gene]
  • LOC130006054:ATAC-STARR-seq lymphoblastoid silent region 3549 [Gene]
  • LOC130006055:ATAC-STARR-seq lymphoblastoid silent region 3550 [Gene]
  • EHBP1L1:EH domain binding protein 1 like 1 [Gene - OMIM - HGNC]
  • RELA-DT:RELA divergent transcript [Gene - HGNC]
  • RELA:RELA proto-oncogene, NF-kB subunit [Gene - OMIM - HGNC]
  • SCYL1:SCY1 like pseudokinase 1 [Gene - OMIM - HGNC]
  • LOC124500670:Sharpr-MPRA regulatory region 14514 [Gene]
  • LOC121832793:Sharpr-MPRA regulatory region 4001 [Gene]
  • ZNRD2-DT:ZNRD2 divergent transcript [Gene - HGNC]
  • FAM89B:family with sequence similarity 89 member B [Gene - OMIM - HGNC]
  • LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]
  • MIR4489:microRNA 4489 [Gene - HGNC]
  • MIR4690:microRNA 4690 [Gene - HGNC]
  • MAP3K11:mitogen-activated protein kinase kinase kinase 11 [Gene - OMIM - HGNC]
  • PCNX3:pecanex 3 [Gene - OMIM - HGNC]
  • KCNK7:potassium two pore domain channel subfamily K member 7 [Gene - OMIM - HGNC]
  • SIPA1:signal-induced proliferation-associated 1 [Gene - OMIM - HGNC]
  • ZNRD2:zinc ribbon domain containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3
HGVS:
  • NC_000011.10:g.(?_65520831)_(65695349_?)dup
  • NC_000011.9:g.(?_65288302)_(65462820_?)dup
Links:
dbVar: nssv1608770; dbVar: nsv932562
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
SCV000182052GeneDx
no assertion criteria provided
Uncertain significance
(Apr 30, 2011) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000182052.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023