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GRCh38/hg38 15q26.3(chr15:99848343-100704243)x1 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:
RCV000051972.6

Allele description [Variation Report for GRCh38/hg38 15q26.3(chr15:99848343-100704243)x1]

GRCh38/hg38 15q26.3(chr15:99848343-100704243)x1

Genes:
  • ADAMTS17:ADAM metallopeptidase with thrombospondin type 1 motif 17 [Gene - OMIM - HGNC]
  • LOC130058035:ATAC-STARR-seq lymphoblastoid active region 10164 [Gene]
  • LOC130058036:ATAC-STARR-seq lymphoblastoid active region 10165 [Gene]
  • LOC130058037:ATAC-STARR-seq lymphoblastoid active region 10166 [Gene]
  • LOC130058039:ATAC-STARR-seq lymphoblastoid active region 10167 [Gene]
  • LOC130058040:ATAC-STARR-seq lymphoblastoid active region 10168 [Gene]
  • LOC130058041:ATAC-STARR-seq lymphoblastoid active region 10169 [Gene]
  • LOC130058042:ATAC-STARR-seq lymphoblastoid active region 10170 [Gene]
  • LOC130058045:ATAC-STARR-seq lymphoblastoid active region 10171 [Gene]
  • LOC130058046:ATAC-STARR-seq lymphoblastoid active region 10172 [Gene]
  • LOC130058047:ATAC-STARR-seq lymphoblastoid active region 10173 [Gene]
  • LOC130058038:ATAC-STARR-seq lymphoblastoid silent region 6876 [Gene]
  • LOC130058043:ATAC-STARR-seq lymphoblastoid silent region 6877 [Gene]
  • LOC130058044:ATAC-STARR-seq lymphoblastoid silent region 6878 [Gene]
  • LOC126862249:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:100651166-100652365 [Gene]
  • CERS3-AS1:CERS3 antisense RNA 1 [Gene - HGNC]
  • LOC126862248:MED14-independent group 3 enhancer GRCh37_chr15:100556815-100558014 [Gene]
  • LOC126862251:MED14-independent group 3 enhancer GRCh37_chr15:100781303-100782502 [Gene]
  • LOC129390747:MPRA-validated peak2453 silencer [Gene]
  • LOC129390748:MPRA-validated peak2454 silencer [Gene]
  • LOC126862250:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:100663469-100664668 [Gene]
  • LOC121847963:Sharpr-MPRA regulatory region 10020 [Gene]
  • LOC121847962:Sharpr-MPRA regulatory region 11003 [Gene]
  • LOC113939942:Sharpr-MPRA regulatory region 8829 [Gene]
  • LOC121847964:Sharpr-MPRA regulatory region 9518 [Gene]
  • ASB7:ankyrin repeat and SOCS box containing 7 [Gene - OMIM - HGNC]
  • CERS3:ceramide synthase 3 [Gene - OMIM - HGNC]
  • LINS1:lines homolog 1 [Gene - OMIM - HGNC]
  • SPATA41:spermatogenesis associated 41 [Gene - HGNC]
  • LOC102723335:uncharacterized LOC102723335 [Gene]
Variant type:
copy number loss
Cytogenetic location:
15q26.3
Genomic location:
Preferred name:
GRCh38/hg38 15q26.3(chr15:99848343-100704243)x1
HGVS:
  • NC_000015.10:g.(?_99848343)_(100704243_?)del
  • NC_000015.8:g.(?_98206071)_(99061971_?)del
  • NC_000015.9:g.(?_100388548)_(101244448_?)del
Links:
dbVar: nssv580390; dbVar: nsv530686
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
SCV000079321ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not 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 4, SCV000079321.5

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

Last Updated: May 7, 2024