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GRCh38/hg38 2p11.2(chr2:86797744-87705899)x3 AND See cases

Germline classification:
Benign (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:
RCV000053656.6

Allele description [Variation Report for GRCh38/hg38 2p11.2(chr2:86797744-87705899)x3]

GRCh38/hg38 2p11.2(chr2:86797744-87705899)x3

Genes:
  • LOC129934263:ATAC-STARR-seq lymphoblastoid silent region 11721 [Gene]
  • LOC129934264:ATAC-STARR-seq lymphoblastoid silent region 11722 [Gene]
  • LOC129934265:ATAC-STARR-seq lymphoblastoid silent region 11723 [Gene]
  • LOC129934266:ATAC-STARR-seq lymphoblastoid silent region 11724 [Gene]
  • LOC129934267:ATAC-STARR-seq lymphoblastoid silent region 11725 [Gene]
  • CD8A:CD8 subunit alpha [Gene - OMIM - HGNC]
  • CD8B:CD8 subunit beta [Gene - OMIM - HGNC]
  • LOC129388887:MPRA-validated peak3783 silencer [Gene]
  • NCAL1:NK cell activity associated lncRNA 1 [Gene - HGNC]
  • RGPD1:RANBP2 like and GRIP domain containing 1 [Gene - OMIM - HGNC]
  • LOC122787148:Sharpr-MPRA regulatory region 1379 [Gene]
  • CYTOR:cytoskeleton regulator RNA [Gene - HGNC]
  • LINC01943:long intergenic non-protein coding RNA 1943 [Gene - HGNC]
  • MIR4435-1:microRNA 4435-1 [Gene - HGNC]
  • MIR4771-1:microRNA 4771-1 [Gene - HGNC]
  • PLGLB1:plasminogen like B1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
GRCh38/hg38 2p11.2(chr2:86797744-87705899)x3
HGVS:
  • NC_000002.12:g.(?_86797744)_(87705899_?)dup
  • NC_000002.10:g.(?_86878378)_(87786533_?)dup
  • NC_000002.11:g.(?_87024867)_(88005418_?)dup
Links:
dbVar: nssv577636; dbVar: nsv532319
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
SCV000081019ISCA site 14

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Benign
(Aug 12, 2011) 		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

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, SCV000081019.5

#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