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GRCh38/hg38 2p14(chr2:65377225-66768570)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:
RCV000140148.4

Allele description [Variation Report for GRCh38/hg38 2p14(chr2:65377225-66768570)x3]

GRCh38/hg38 2p14(chr2:65377225-66768570)x3

Genes:
  • LOC129933957:ATAC-STARR-seq lymphoblastoid active region 15931 [Gene]
  • LOC129933958:ATAC-STARR-seq lymphoblastoid active region 15932 [Gene]
  • LOC129933959:ATAC-STARR-seq lymphoblastoid active region 15933 [Gene]
  • LOC129933960:ATAC-STARR-seq lymphoblastoid active region 15934 [Gene]
  • LOC129933961:ATAC-STARR-seq lymphoblastoid active region 15935 [Gene]
  • LOC129933962:ATAC-STARR-seq lymphoblastoid active region 15936 [Gene]
  • LOC129933969:ATAC-STARR-seq lymphoblastoid active region 15937 [Gene]
  • LOC129933970:ATAC-STARR-seq lymphoblastoid active region 15938 [Gene]
  • LOC129933971:ATAC-STARR-seq lymphoblastoid active region 15939 [Gene]
  • LOC129933963:ATAC-STARR-seq lymphoblastoid silent region 11579 [Gene]
  • LOC129933964:ATAC-STARR-seq lymphoblastoid silent region 11580 [Gene]
  • LOC129933965:ATAC-STARR-seq lymphoblastoid silent region 11581 [Gene]
  • LOC129933966:ATAC-STARR-seq lymphoblastoid silent region 11582 [Gene]
  • LOC129933967:ATAC-STARR-seq lymphoblastoid silent region 11583 [Gene]
  • LOC129933968:ATAC-STARR-seq lymphoblastoid silent region 11584 [Gene]
  • LOC126806237:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:66666573-66667772 [Gene]
  • LOC111258520:E2 enhancer in MEIS1 [Gene]
  • LOC111258516:E4 enhancer upstream of MEIS1 [Gene]
  • LOC111258517:E5 enhancer in MEIS1 [Gene]
  • LOC111258518:E7 enhancer in MEIS1 [Gene]
  • HCNR606:HCNR606 enhancer in MEIS1 [Gene]
  • HCNR617:HCNR617 enhancer in MEIS1 [Gene]
  • HHC2:065915:HHc2:065915 enhancer upstream of MEIS1 [Gene]
  • HHC2:065944:HHc2:065944 enhancer upstream of MEIS1 [Gene]
  • HHC2:066588:HHc2:066588 enhancer in MEIS1 [Gene]
  • HHC2:066628:HHc2:066628 enhancer in MEIS1 [Gene]
  • HHC2:066650:HHc2:066650 enhancer in MEIS1 [Gene]
  • HHC2:066659:HHc2:066659 enhancer in MEIS1 [Gene]
  • LOC111258509:HHc2:067135 enhancer in MEIS1 [Gene]
  • HHC2:067347:HHc2:067347 enhancer downstream of MEIS1 [Gene]
  • LOC126806235:MED14-independent group 3 enhancer GRCh37_chr2:66270681-66271880 [Gene]
  • LOC126806236:MED14-independent group 3 enhancer GRCh37_chr2:66397659-66398858 [Gene]
  • LOC111258501:MEIS1 5' regulatory region [Gene]
  • MEIS1-AS2:MEIS1 antisense RNA 2 [Gene - HGNC]
  • MEIS1-AS3:MEIS1 antisense RNA 3 [Gene - HGNC]
  • LOC129388877:MPRA-validated peak3734 silencer [Gene]
  • MEIS1:Meis homeobox 1 [Gene - OMIM - HGNC]
  • LOC126806233:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:65803564-65804763 [Gene]
  • LOC126806234:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:65889564-65890763 [Gene]
  • LOC120961761:Sharpr-MPRA regulatory region 4056 [Gene]
  • LOC122757960:Sharpr-MPRA regulatory region 8914 [Gene]
  • LOC110120611:VISTA enhancer hs205 [Gene]
  • LINC01797:long intergenic non-protein coding RNA 1797 [Gene - HGNC]
  • LINC01798:long intergenic non-protein coding RNA 1798 [Gene - HGNC]
  • LINC01873:long intergenic non-protein coding RNA 1873 [Gene - HGNC]
  • LINC02934:long intergenic non-protein coding RNA 2934 [Gene - HGNC]
  • LINC03050:long intergenic non-protein coding RNA 3050 [Gene - HGNC]
  • MIR4778:microRNA 4778 [Gene - HGNC]
  • SPRED2:sprouty related EVH1 domain containing 2 [Gene - OMIM - HGNC]
  • LOC105374780:uncharacterized LOC105374780 [Gene]
Variant type:
copy number gain
Cytogenetic location:
2p14
Genomic location:
Preferred name:
GRCh38/hg38 2p14(chr2:65377225-66768570)x3
HGVS:
  • NC_000002.12:g.(?_65377225)_(66768570_?)dup
  • NC_000002.11:g.(?_65604359)_(66995702_?)dup
Links:
dbVar: nssv1609224; dbVar: nsv931321
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
SCV000180820GeneDx
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, SCV000180820.3

#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