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GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000051510.5

Allele description [Variation Report for GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1]

GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1

Genes:
  • ARPP21-AS1:ARPP21 antisense RNA 1 [Gene - HGNC]
  • LOC129936435:ATAC-STARR-seq lymphoblastoid active region 19645 [Gene]
  • LOC129936438:ATAC-STARR-seq lymphoblastoid active region 19646 [Gene]
  • LOC129936439:ATAC-STARR-seq lymphoblastoid active region 19647 [Gene]
  • LOC129936443:ATAC-STARR-seq lymphoblastoid active region 19648 [Gene]
  • LOC129936444:ATAC-STARR-seq lymphoblastoid active region 19649 [Gene]
  • LOC129936445:ATAC-STARR-seq lymphoblastoid active region 19650 [Gene]
  • LOC129936447:ATAC-STARR-seq lymphoblastoid active region 19651 [Gene]
  • LOC129936449:ATAC-STARR-seq lymphoblastoid active region 19653 [Gene]
  • LOC129936450:ATAC-STARR-seq lymphoblastoid active region 19654 [Gene]
  • LOC129936452:ATAC-STARR-seq lymphoblastoid active region 19655 [Gene]
  • LOC129936453:ATAC-STARR-seq lymphoblastoid active region 19656 [Gene]
  • LOC129936454:ATAC-STARR-seq lymphoblastoid active region 19657 [Gene]
  • LOC129936455:ATAC-STARR-seq lymphoblastoid active region 19658 [Gene]
  • LOC129936456:ATAC-STARR-seq lymphoblastoid active region 19659 [Gene]
  • LOC129936434:ATAC-STARR-seq lymphoblastoid silent region 14182 [Gene]
  • LOC129936436:ATAC-STARR-seq lymphoblastoid silent region 14183 [Gene]
  • LOC129936437:ATAC-STARR-seq lymphoblastoid silent region 14184 [Gene]
  • LOC129936440:ATAC-STARR-seq lymphoblastoid silent region 14185 [Gene]
  • LOC129936441:ATAC-STARR-seq lymphoblastoid silent region 14186 [Gene]
  • LOC129936442:ATAC-STARR-seq lymphoblastoid silent region 14190 [Gene]
  • LOC129936446:ATAC-STARR-seq lymphoblastoid silent region 14191 [Gene]
  • LOC129936448:ATAC-STARR-seq lymphoblastoid silent region 14192 [Gene]
  • LOC129936451:ATAC-STARR-seq lymphoblastoid silent region 14193 [Gene]
  • LOC129936457:ATAC-STARR-seq lymphoblastoid silent region 14194 [Gene]
  • LOC126806648:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:33194307-33195506 [Gene]
  • FBXL2:F-box and leucine rich repeat protein 2 [Gene - OMIM - HGNC]
  • LOC126806649:MED14-independent group 3 enhancer GRCh37_chr3:33508920-33510119 [Gene]
  • LOC129389049:MPRA-validated peak4597 silencer [Gene]
  • LOC129389050:MPRA-validated peak4598 silencer [Gene]
  • LOC129389051:MPRA-validated peak4600 silencer [Gene]
  • LOC129389052:MPRA-validated peak4601 silencer [Gene]
  • LOC129389053:MPRA-validated peak4603 silencer [Gene]
  • LOC129389054:MPRA-validated peak4607 silencer [Gene]
  • LOC129389055:MPRA-validated peak4610 silencer [Gene]
  • PDCD6IP-DT:PDCD6IP divergent transcript [Gene - HGNC]
  • STAC:SH3 and cysteine rich domain [Gene - OMIM - HGNC]
  • LOC121725138:Sharpr-MPRA regulatory region 10469 [Gene]
  • LOC122889065:Sharpr-MPRA regulatory region 11903 [Gene]
  • LOC121009657:Sharpr-MPRA regulatory region 13437 [Gene]
  • LOC122889066:Sharpr-MPRA regulatory region 2911 [Gene]
  • LOC121009656:Sharpr-MPRA regulatory region 5398 [Gene]
  • ARPP21:cAMP regulated phosphoprotein 21 [Gene - OMIM - HGNC]
  • CRTAP:cartilage associated protein [Gene - OMIM - HGNC]
  • CLASP2:cytoplasmic linker associated protein 2 [Gene - OMIM - HGNC]
  • DCLK3:doublecortin like kinase 3 [Gene - OMIM - HGNC]
  • GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
  • LINC01811:long intergenic non-protein coding RNA 1811 [Gene - HGNC]
  • LINC02033:long intergenic non-protein coding RNA 2033 [Gene - HGNC]
  • MIR128-2:microRNA 128-2 [Gene - OMIM - HGNC]
  • PDCD6IP:programmed cell death 6 interacting protein [Gene - OMIM - HGNC]
  • SUSD5:sushi domain containing 5 [Gene - OMIM - HGNC]
  • TRANK1:tetratricopeptide repeat and ankyrin repeat containing 1 [Gene - OMIM - HGNC]
  • TMPPE:transmembrane protein with metallophosphoesterase domain [Gene - HGNC]
  • LOC101928135:uncharacterized LOC101928135 [Gene]
  • UBP1:upstream binding protein 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3p22.3-22.2
Genomic location:
Preferred name:
GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1
HGVS:
  • NC_000003.12:g.(?_33062199)_(36829440_?)del
  • NC_000003.10:g.(?_33078695)_(36845935_?)del
  • NC_000003.11:g.(?_33103691)_(36870931_?)del
Links:
dbVar: nssv577900; dbVar: nsv530032
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
SCV000078858ISCA site 14

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 14, SCV000078858.4

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

Last Updated: May 7, 2024