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GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3 AND See cases

Germline classification:
Uncertain significance (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:
RCV000052167.5

Allele description [Variation Report for GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3]

GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3

Genes:
  • ADAMDEC1:ADAM like decysin 1 [Gene - OMIM - HGNC]
  • ADAM28:ADAM metallopeptidase domain 28 [Gene - OMIM - HGNC]
  • ADAM7:ADAM metallopeptidase domain 7 [Gene - OMIM - HGNC]
  • ADAM7-AS2:ADAM7 antisense RNA 2 [Gene - HGNC]
  • ADAM7-AS1:ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1 [Gene - HGNC]
  • LOC130000047:ATAC-STARR-seq lymphoblastoid active region 27123 [Gene]
  • LOC130000043:ATAC-STARR-seq lymphoblastoid silent region 19031 [Gene]
  • LOC130000044:ATAC-STARR-seq lymphoblastoid silent region 19032 [Gene]
  • LOC130000045:ATAC-STARR-seq lymphoblastoid silent region 19033 [Gene]
  • LOC130000046:ATAC-STARR-seq lymphoblastoid silent region 19034 [Gene]
  • LOC126860329:BRD4-independent group 4 enhancer GRCh37_chr8:24244666-24245865 [Gene]
  • LOC126860330:BRD4-independent group 4 enhancer GRCh37_chr8:24811677-24812876 [Gene]
  • LOC129389967:MPRA-validated peak6951 silencer [Gene]
  • LOC129389968:MPRA-validated peak6954 silencer [Gene]
  • LOC113788272:Sharpr-MPRA regulatory region 10080 [Gene]
  • LOC113788273:Sharpr-MPRA regulatory region 10341 [Gene]
  • LOC113788274:Sharpr-MPRA regulatory region 10380 [Gene]
  • LOC124153126:Sharpr-MPRA regulatory region 2993 [Gene]
  • LOC121740712:Sharpr-MPRA regulatory region 6380 [Gene]
  • LOC124153125:Sharpr-MPRA regulatory region 9467 [Gene]
  • DOCK5:dedicator of cytokinesis 5 [Gene - OMIM - HGNC]
  • GNRH1:gonadotropin releasing hormone 1 [Gene - OMIM - HGNC]
  • MIR6841:microRNA 6841 [Gene - HGNC]
  • MIR6876:microRNA 6876 [Gene - HGNC]
  • NEFL:neurofilament light chain [Gene - OMIM - HGNC]
  • NEFM:neurofilament medium chain [Gene - OMIM - HGNC]
  • KCTD9:potassium channel tetramerization domain containing 9 [Gene - OMIM - HGNC]
  • LOC105379331:uncharacterized LOC105379331 [Gene]
Variant type:
copy number gain
Cytogenetic location:
8p21.2
Genomic location:
Preferred name:
GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3
HGVS:
  • NC_000008.11:g.(?_23961808)_(25436108_?)dup
  • NC_000008.10:g.(?_23819321)_(25293624_?)dup
  • NC_000008.9:g.(?_23875266)_(25349541_?)dup
Links:
dbVar: nssv581323; dbVar: nsv530878
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
SCV000079516GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(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 GeneDx, SCV000079516.5

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

Last Updated: Oct 14, 2023