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GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2009
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:
RCV000135397.6

Allele description [Variation Report for GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1]

GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1

Genes:
  • ADAMTS17:ADAM metallopeptidase with thrombospondin type 1 motif 17 [Gene - OMIM - HGNC]
  • ALDH1A3-AS1:ALDH1A3 antisense RNA 1 [Gene - HGNC]
  • LOC130057996:ATAC-STARR-seq lymphoblastoid active region 10139 [Gene]
  • LOC130058003:ATAC-STARR-seq lymphoblastoid active region 10141 [Gene]
  • LOC130058004:ATAC-STARR-seq lymphoblastoid active region 10142 [Gene]
  • LOC130058005:ATAC-STARR-seq lymphoblastoid active region 10143 [Gene]
  • LOC130058006:ATAC-STARR-seq lymphoblastoid active region 10144 [Gene]
  • LOC130058007:ATAC-STARR-seq lymphoblastoid active region 10145 [Gene]
  • LOC130058008:ATAC-STARR-seq lymphoblastoid active region 10146 [Gene]
  • LOC130058012:ATAC-STARR-seq lymphoblastoid active region 10148 [Gene]
  • LOC130058013:ATAC-STARR-seq lymphoblastoid active region 10149 [Gene]
  • LOC130058016:ATAC-STARR-seq lymphoblastoid active region 10150 [Gene]
  • LOC130058018:ATAC-STARR-seq lymphoblastoid active region 10151 [Gene]
  • LOC130058020:ATAC-STARR-seq lymphoblastoid active region 10154 [Gene]
  • LOC130058022:ATAC-STARR-seq lymphoblastoid active region 10155 [Gene]
  • LOC130058023:ATAC-STARR-seq lymphoblastoid active region 10156 [Gene]
  • LOC130058024:ATAC-STARR-seq lymphoblastoid active region 10157 [Gene]
  • LOC130058025:ATAC-STARR-seq lymphoblastoid active region 10158 [Gene]
  • LOC130058026:ATAC-STARR-seq lymphoblastoid active region 10159 [Gene]
  • LOC130058028:ATAC-STARR-seq lymphoblastoid active region 10160 [Gene]
  • LOC130058029:ATAC-STARR-seq lymphoblastoid active region 10161 [Gene]
  • LOC130058031:ATAC-STARR-seq lymphoblastoid active region 10162 [Gene]
  • LOC130058032:ATAC-STARR-seq lymphoblastoid active region 10163 [Gene]
  • 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]
  • LOC130058050:ATAC-STARR-seq lymphoblastoid active region 10176 [Gene]
  • LOC130058051:ATAC-STARR-seq lymphoblastoid active region 10177 [Gene]
  • LOC130058052:ATAC-STARR-seq lymphoblastoid active region 10178 [Gene]
  • LOC130058053:ATAC-STARR-seq lymphoblastoid active region 10179 [Gene]
  • LOC130058054:ATAC-STARR-seq lymphoblastoid active region 10180 [Gene]
  • LOC130058056:ATAC-STARR-seq lymphoblastoid active region 10181 [Gene]
  • LOC130058057:ATAC-STARR-seq lymphoblastoid active region 10182 [Gene]
  • LOC130058060:ATAC-STARR-seq lymphoblastoid active region 10183 [Gene]
  • LOC130058061:ATAC-STARR-seq lymphoblastoid active region 10184 [Gene]
  • LOC130058062:ATAC-STARR-seq lymphoblastoid active region 10185 [Gene]
  • LOC130058063:ATAC-STARR-seq lymphoblastoid active region 10186 [Gene]
  • LOC130058064:ATAC-STARR-seq lymphoblastoid active region 10187 [Gene]
  • LOC130058065:ATAC-STARR-seq lymphoblastoid active region 10188 [Gene]
  • LOC130058066:ATAC-STARR-seq lymphoblastoid active region 10189 [Gene]
  • LOC130058067:ATAC-STARR-seq lymphoblastoid active region 10190 [Gene]
  • LOC130058071:ATAC-STARR-seq lymphoblastoid active region 10191 [Gene]
  • LOC130058073:ATAC-STARR-seq lymphoblastoid active region 10192 [Gene]
  • LOC130058075:ATAC-STARR-seq lymphoblastoid active region 10193 [Gene]
  • LOC130058076:ATAC-STARR-seq lymphoblastoid active region 10194 [Gene]
  • LOC130058080:ATAC-STARR-seq lymphoblastoid active region 10195 [Gene]
  • LOC130058082:ATAC-STARR-seq lymphoblastoid active region 10196 [Gene]
  • LOC130057997:ATAC-STARR-seq lymphoblastoid silent region 6853 [Gene]
  • LOC130057998:ATAC-STARR-seq lymphoblastoid silent region 6854 [Gene]
  • LOC130057999:ATAC-STARR-seq lymphoblastoid silent region 6855 [Gene]
  • LOC130058000:ATAC-STARR-seq lymphoblastoid silent region 6856 [Gene]
  • LOC130058001:ATAC-STARR-seq lymphoblastoid silent region 6857 [Gene]
  • LOC130058002:ATAC-STARR-seq lymphoblastoid silent region 6858 [Gene]
  • LOC130058009:ATAC-STARR-seq lymphoblastoid silent region 6859 [Gene]
  • LOC130058010:ATAC-STARR-seq lymphoblastoid silent region 6862 [Gene]
  • LOC130058011:ATAC-STARR-seq lymphoblastoid silent region 6863 [Gene]
  • LOC130058014:ATAC-STARR-seq lymphoblastoid silent region 6864 [Gene]
  • LOC130058015:ATAC-STARR-seq lymphoblastoid silent region 6865 [Gene]
  • LOC130058017:ATAC-STARR-seq lymphoblastoid silent region 6866 [Gene]
  • LOC130058019:ATAC-STARR-seq lymphoblastoid silent region 6867 [Gene]
  • LOC130058021:ATAC-STARR-seq lymphoblastoid silent region 6868 [Gene]
  • LOC130058027:ATAC-STARR-seq lymphoblastoid silent region 6869 [Gene]
  • LOC130058030:ATAC-STARR-seq lymphoblastoid silent region 6872 [Gene]
  • LOC130058033:ATAC-STARR-seq lymphoblastoid silent region 6873 [Gene]
  • LOC130058034:ATAC-STARR-seq lymphoblastoid silent region 6874 [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]
  • LOC130058048:ATAC-STARR-seq lymphoblastoid silent region 6879 [Gene]
  • LOC130058049:ATAC-STARR-seq lymphoblastoid silent region 6881 [Gene]
  • LOC130058055:ATAC-STARR-seq lymphoblastoid silent region 6882 [Gene]
  • LOC130058058:ATAC-STARR-seq lymphoblastoid silent region 6883 [Gene]
  • LOC130058059:ATAC-STARR-seq lymphoblastoid silent region 6884 [Gene]
  • LOC130058068:ATAC-STARR-seq lymphoblastoid silent region 6885 [Gene]
  • LOC130058069:ATAC-STARR-seq lymphoblastoid silent region 6886 [Gene]
  • LOC130058070:ATAC-STARR-seq lymphoblastoid silent region 6887 [Gene]
  • LOC130058072:ATAC-STARR-seq lymphoblastoid silent region 6888 [Gene]
  • LOC130058074:ATAC-STARR-seq lymphoblastoid silent region 6889 [Gene]
  • LOC130058077:ATAC-STARR-seq lymphoblastoid silent region 6890 [Gene]
  • LOC130058078:ATAC-STARR-seq lymphoblastoid silent region 6891 [Gene]
  • LOC130058079:ATAC-STARR-seq lymphoblastoid silent region 6892 [Gene]
  • LOC130058081:ATAC-STARR-seq lymphoblastoid silent region 6894 [Gene]
  • LOC126862253:BRD4-independent group 4 enhancer GRCh37_chr15:101262004-101263203 [Gene]
  • LOC126862254:BRD4-independent group 4 enhancer GRCh37_chr15:101342428-101343627 [Gene]
  • LOC126862257:BRD4-independent group 4 enhancer GRCh37_chr15:102119493-102120692 [Gene]
  • LOC126862258:BRD4-independent group 4 enhancer GRCh37_chr15:102303375-102304574 [Gene]
  • LOC126862259:BRD4-independent group 4 enhancer GRCh37_chr15:102368999-102370198 [Gene]
  • LOC126862242:BRD4-independent group 4 enhancer GRCh37_chr15:98776351-98777550 [Gene]
  • LOC126862243:BRD4-independent group 4 enhancer GRCh37_chr15:98957206-98958405 [Gene]
  • LOC126862246:BRD4-independent group 4 enhancer GRCh37_chr15:99758119-99759318 [Gene]
  • LOC126862249:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:100651166-100652365 [Gene]
  • LOC126862255:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:101567313-101568512 [Gene]
  • LOC126862241:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:98721449-98722648 [Gene]
  • LOC126862244:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:99211661-99212860 [Gene]
  • CERS3-AS1:CERS3 antisense RNA 1 [Gene - HGNC]
  • IRAIN:IGF1R antisense imprinted non-protein coding RNA [Gene - OMIM - HGNC]
  • LYSMD4:LysM domain containing 4 [Gene - HGNC]
  • LOC126862248:MED14-independent group 3 enhancer GRCh37_chr15:100556815-100558014 [Gene]
  • LOC126862251:MED14-independent group 3 enhancer GRCh37_chr15:100781303-100782502 [Gene]
  • LOC126862256:MED14-independent group 3 enhancer GRCh37_chr15:102009487-102010686 [Gene]
  • LOC126862240:MED14-independent group 3 enhancer GRCh37_chr15:98513642-98514841 [Gene]
  • LOC126862247:MED14-independent group 3 enhancer GRCh37_chr15:99973380-99974579 [Gene]
  • LOC129390740:MPRA-validated peak2437 silencer [Gene]
  • LOC129390741:MPRA-validated peak2438 silencer [Gene]
  • LOC129390742:MPRA-validated peak2442 silencer [Gene]
  • LOC129390743:MPRA-validated peak2445 silencer [Gene]
  • LOC129390744:MPRA-validated peak2447 silencer [Gene]
  • LOC129390745:MPRA-validated peak2449 silencer [Gene]
  • LOC129390746:MPRA-validated peak2450 silencer [Gene]
  • LOC129390747:MPRA-validated peak2453 silencer [Gene]
  • LOC129390748:MPRA-validated peak2454 silencer [Gene]
  • LOC129390749:MPRA-validated peak2455 silencer [Gene]
  • LOC129390750:MPRA-validated peak2457 silencer [Gene]
  • LOC132090367:Neanderthal introgressed variant-containing enhancer experimental_42793 [Gene]
  • LOC132090368:Neanderthal introgressed variant-containing enhancer experimental_42800 [Gene]
  • LOC132090369:Neanderthal introgressed variant-containing enhancer experimental_42822 [Gene]
  • LOC126862250:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:100663469-100664668 [Gene]
  • LOC126862252:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:101253262-101254461 [Gene]
  • LOC126862238:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:97929831-97931030 [Gene]
  • LOC126862239:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:98234570-98235769 [Gene]
  • LOC126862245:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:99439536-99440735 [Gene]
  • PCSK6-AS1:PCSK6 antisense RNA 1 [Gene - HGNC]
  • SNRPA1-DT:SNRPA1 divergent transcript [Gene - HGNC]
  • SYNM-AS1:SYNM antisense RNA 1 [Gene - HGNC]
  • LOC121847963:Sharpr-MPRA regulatory region 10020 [Gene]
  • LOC121847962:Sharpr-MPRA regulatory region 11003 [Gene]
  • LOC112296178:Sharpr-MPRA regulatory region 12410 [Gene]
  • LOC125146368:Sharpr-MPRA regulatory region 13394 [Gene]
  • LOC125146370:Sharpr-MPRA regulatory region 1457 [Gene]
  • LOC121847965:Sharpr-MPRA regulatory region 1628 [Gene]
  • LOC125146364:Sharpr-MPRA regulatory region 1749 [Gene]
  • LOC125146365:Sharpr-MPRA regulatory region 1759 [Gene]
  • LOC121847966:Sharpr-MPRA regulatory region 2389 [Gene]
  • LOC125146367:Sharpr-MPRA regulatory region 6154 [Gene]
  • LOC125146363:Sharpr-MPRA regulatory region 7544 [Gene]
  • LOC113939942:Sharpr-MPRA regulatory region 8829 [Gene]
  • LOC112272574:Sharpr-MPRA regulatory region 9420 [Gene]
  • LOC121847964:Sharpr-MPRA regulatory region 9518 [Gene]
  • LOC125146369:Sharpr-MPRA regulatory region 9624 [Gene]
  • LOC125146362:Sharpr-MPRA regulatory regions 4169 and 6096 [Gene]
  • TM2D3:TM2 domain containing 3 [Gene - OMIM - HGNC]
  • TTC23-AS1:TTC23 antisense RNA 1 [Gene - HGNC]
  • LOC110121464:VISTA enhancer hs1932 [Gene]
  • ALDH1A3:aldehyde dehydrogenase 1 family member A3 [Gene - OMIM - HGNC]
  • ASB7:ankyrin repeat and SOCS box containing 7 [Gene - OMIM - HGNC]
  • ARRDC4:arrestin domain containing 4 [Gene - OMIM - HGNC]
  • CERS3:ceramide synthase 3 [Gene - OMIM - HGNC]
  • CHSY1:chondroitin sulfate synthase 1 [Gene - OMIM - HGNC]
  • GCAWKR:gastric cancer associated WDR5 and KAT2A binding lncRNA [Gene - HGNC]
  • IGF1R:insulin like growth factor 1 receptor [Gene - OMIM - HGNC]
  • LRRC28:leucine rich repeat containing 28 [Gene - HGNC]
  • LRRK1:leucine rich repeat kinase 1 [Gene - OMIM - HGNC]
  • LUNAR1:leukemia-associated non-coding IGF1R activator RNA 1 [Gene - HGNC]
  • LINS1:lines homolog 1 [Gene - OMIM - HGNC]
  • LINC01582:long intergenic non-protein coding RNA 1582 [Gene - HGNC]
  • LINC02244:long intergenic non-protein coding RNA 2244 [Gene - HGNC]
  • LINC02251:long intergenic non-protein coding RNA 2251 [Gene - HGNC]
  • LINC02253:long intergenic non-protein coding RNA 2253 [Gene - HGNC]
  • LINC02254:long intergenic non-protein coding RNA 2254 [Gene - HGNC]
  • LINC02348:long intergenic non-protein coding RNA 2348 [Gene - HGNC]
  • LINC02351:long intergenic non-protein coding RNA 2351 [Gene - HGNC]
  • LINC00923:long intergenic non-protein coding RNA 923 [Gene - HGNC]
  • MIR4714:microRNA 4714 [Gene - HGNC]
  • MEF2A:myocyte enhancer factor 2A [Gene - OMIM - HGNC]
  • OR4F15:olfactory receptor family 4 subfamily F member 15 [Gene - HGNC]
  • OR4F6:olfactory receptor family 4 subfamily F member 6 [Gene - HGNC]
  • PCSK6:proprotein convertase subtilisin/kexin type 6 [Gene - OMIM - HGNC]
  • PGPEP1L:pyroglutamyl-peptidase I like [Gene - HGNC]
  • SELENOS:selenoprotein S [Gene - OMIM - HGNC]
  • SNRPA1:small nuclear ribonucleoprotein polypeptide A' [Gene - OMIM - HGNC]
  • SPATA41:spermatogenesis associated 41 [Gene - HGNC]
  • SYNM:synemin [Gene - OMIM - HGNC]
  • TTC23:tetratricopeptide repeat domain 23 [Gene - HGNC]
  • TARS3:threonyl-tRNA synthetase 3 [Gene - HGNC]
  • LOC100507472:uncharacterized LOC100507472 [Gene]
  • LOC101927310:uncharacterized LOC101927310 [Gene]
  • LOC102723335:uncharacterized LOC102723335 [Gene]
  • LOC105371006:uncharacterized LOC105371006 [Gene]
  • LOC105371017:uncharacterized LOC105371017 [Gene]
Variant type:
copy number loss
Cytogenetic location:
15q26.2-26.3
Genomic location:
Preferred name:
GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1
HGVS:
  • NC_000015.10:g.(?_97014065)_(101843270_?)del
  • NC_000015.8:g.(?_95358299)_(100200996_?)del
  • NC_000015.9:g.(?_97557295)_(102383473_?)del
Links:
dbVar: nssv582315; dbVar: nsv529052
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
SCV000175079ISCA site 17

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 30, 2009) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 17, SCV000175079.3

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

Last Updated: May 7, 2024