U.S. flag

An official website of the United States government

GRCh38/hg38 15q14(chr15:34995451-39735062)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:
RCV000050890.6

Allele description [Variation Report for GRCh38/hg38 15q14(chr15:34995451-39735062)x1]

GRCh38/hg38 15q14(chr15:34995451-39735062)x1

Genes:
  • LOC130056767:ATAC-STARR-seq lymphoblastoid active region 9190 [Gene]
  • LOC130056770:ATAC-STARR-seq lymphoblastoid active region 9191 [Gene]
  • LOC130056771:ATAC-STARR-seq lymphoblastoid active region 9192 [Gene]
  • LOC130056772:ATAC-STARR-seq lymphoblastoid active region 9193 [Gene]
  • LOC130056773:ATAC-STARR-seq lymphoblastoid active region 9194 [Gene]
  • LOC130056774:ATAC-STARR-seq lymphoblastoid active region 9195 [Gene]
  • LOC130056777:ATAC-STARR-seq lymphoblastoid active region 9196 [Gene]
  • LOC130056778:ATAC-STARR-seq lymphoblastoid active region 9197 [Gene]
  • LOC130056782:ATAC-STARR-seq lymphoblastoid active region 9198 [Gene]
  • LOC130056783:ATAC-STARR-seq lymphoblastoid active region 9199 [Gene]
  • LOC130056784:ATAC-STARR-seq lymphoblastoid active region 9200 [Gene]
  • LOC130056790:ATAC-STARR-seq lymphoblastoid active region 9201 [Gene]
  • LOC130056791:ATAC-STARR-seq lymphoblastoid active region 9202 [Gene]
  • LOC130056792:ATAC-STARR-seq lymphoblastoid active region 9203 [Gene]
  • LOC130056793:ATAC-STARR-seq lymphoblastoid active region 9204 [Gene]
  • LOC130056794:ATAC-STARR-seq lymphoblastoid active region 9205 [Gene]
  • LOC130056795:ATAC-STARR-seq lymphoblastoid active region 9206 [Gene]
  • LOC130056796:ATAC-STARR-seq lymphoblastoid active region 9207 [Gene]
  • LOC130056797:ATAC-STARR-seq lymphoblastoid active region 9208 [Gene]
  • LOC130056801:ATAC-STARR-seq lymphoblastoid active region 9210 [Gene]
  • LOC130056802:ATAC-STARR-seq lymphoblastoid active region 9211 [Gene]
  • LOC130056803:ATAC-STARR-seq lymphoblastoid active region 9212 [Gene]
  • LOC130056804:ATAC-STARR-seq lymphoblastoid active region 9213 [Gene]
  • LOC130056805:ATAC-STARR-seq lymphoblastoid active region 9214 [Gene]
  • LOC130056806:ATAC-STARR-seq lymphoblastoid active region 9215 [Gene]
  • LOC130056808:ATAC-STARR-seq lymphoblastoid active region 9216 [Gene]
  • LOC130056768:ATAC-STARR-seq lymphoblastoid silent region 6292 [Gene]
  • LOC130056769:ATAC-STARR-seq lymphoblastoid silent region 6293 [Gene]
  • LOC130056775:ATAC-STARR-seq lymphoblastoid silent region 6294 [Gene]
  • LOC130056776:ATAC-STARR-seq lymphoblastoid silent region 6295 [Gene]
  • LOC130056779:ATAC-STARR-seq lymphoblastoid silent region 6296 [Gene]
  • LOC130056780:ATAC-STARR-seq lymphoblastoid silent region 6297 [Gene]
  • LOC130056781:ATAC-STARR-seq lymphoblastoid silent region 6298 [Gene]
  • LOC130056785:ATAC-STARR-seq lymphoblastoid silent region 6300 [Gene]
  • LOC130056786:ATAC-STARR-seq lymphoblastoid silent region 6301 [Gene]
  • LOC130056787:ATAC-STARR-seq lymphoblastoid silent region 6302 [Gene]
  • LOC130056788:ATAC-STARR-seq lymphoblastoid silent region 6303 [Gene]
  • LOC130056789:ATAC-STARR-seq lymphoblastoid silent region 6304 [Gene]
  • LOC130056798:ATAC-STARR-seq lymphoblastoid silent region 6305 [Gene]
  • LOC130056799:ATAC-STARR-seq lymphoblastoid silent region 6306 [Gene]
  • LOC130056800:ATAC-STARR-seq lymphoblastoid silent region 6307 [Gene]
  • LOC130056807:ATAC-STARR-seq lymphoblastoid silent region 6309 [Gene]
  • LOC126862105:BRD4-independent group 4 enhancer GRCh37_chr15:38156188-38157387 [Gene]
  • LOC108353818:C15orf54-THBS1 intergenic CAGE-defined monocyte enhancer [Gene]
  • CDIN1:CDAN1 interacting nuclease 1 [Gene - OMIM - HGNC]
  • LOC126862107:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:39185869-39187068 [Gene]
  • DPH6-DT:DPH6 divergent transcript [Gene - HGNC]
  • LOC126862102:MED14-independent group 3 enhancer GRCh37_chr15:35548334-35549533 [Gene]
  • LOC126862103:MED14-independent group 3 enhancer GRCh37_chr15:36165880-36167079 [Gene]
  • LOC126862110:MED14-independent group 3 enhancer GRCh37_chr15:39885600-39886799 [Gene]
  • LOC126862111:MED14-independent group 3 enhancer GRCh37_chr15:39909535-39910734 [Gene]
  • LOC129390685:MPRA-validated peak2297 silencer [Gene]
  • MEIS2:Meis homeobox 2 [Gene - OMIM - HGNC]
  • NANOGP8:Nanog homeobox retrogene P8 [Gene - HGNC]
  • LOC132090301:Neanderthal introgressed variant-containing enhancer experimental_39355 [Gene]
  • LOC132090302:Neanderthal introgressed variant-containing enhancer experimental_39382 [Gene]
  • LOC126862104:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:36720048-36721247 [Gene]
  • LOC126862106:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:38885521-38886720 [Gene]
  • LOC126862108:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:39302529-39303728 [Gene]
  • LOC126862109:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:39505293-39506492 [Gene]
  • RASGRP1:RAS guanyl releasing protein 1 [Gene - OMIM - HGNC]
  • LOC125078057:Sharpr-MPRA regulatory region 1254 [Gene]
  • LOC125078058:Sharpr-MPRA regulatory region 1314 [Gene]
  • LOC125078056:Sharpr-MPRA regulatory region 14069 [Gene]
  • LOC125078059:Sharpr-MPRA regulatory region 4108 [Gene]
  • LOC125078061:Sharpr-MPRA regulatory region 4200 [Gene]
  • LOC121530576:Sharpr-MPRA regulatory region 4521 [Gene]
  • LOC121530577:Sharpr-MPRA regulatory region 6993 [Gene]
  • LOC121530575:Sharpr-MPRA regulatory region 8232 [Gene]
  • THBS1-IT1:THBS1 intronic transcript 1 [Gene - HGNC]
  • LOC110120842:VISTA enhancer hs181 [Gene]
  • LOC110120858:VISTA enhancer hs355 [Gene]
  • LOC110120896:VISTA enhancer hs572 [Gene]
  • LOC110120905:VISTA enhancer hs599 [Gene]
  • LOC110120936:VISTA enhancer hs828 [Gene]
  • LOC110120937:VISTA enhancer hs830 [Gene]
  • DPH6:diphthamine biosynthesis 6 [Gene - OMIM - HGNC]
  • FAM98B:family with sequence similarity 98 member B [Gene - OMIM - HGNC]
  • FSIP1:fibrous sheath interacting protein 1 [Gene - OMIM - HGNC]
  • LINC01852:long intergenic non-protein coding RNA 1852 [Gene - HGNC]
  • LINC02345:long intergenic non-protein coding RNA 2345 [Gene - HGNC]
  • LINC02694:long intergenic non-protein coding RNA 2694 [Gene - HGNC]
  • LINC02853:long intergenic non-protein coding RNA 2853 [Gene - HGNC]
  • LINC02915:long intergenic non-protein coding RNA 2915 [Gene - HGNC]
  • MIR3942:microRNA 3942 [Gene - HGNC]
  • MIR4510:microRNA 4510 [Gene - HGNC]
  • MIR8063:microRNA 8063 [Gene - HGNC]
  • SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
  • THBS1:thrombospondin 1 [Gene - OMIM - HGNC]
  • TMCO5A:transmembrane and coiled-coil domains 5A [Gene - HGNC]
  • LOC105370764:uncharacterized LOC105370764 [Gene]
  • LOC105370781:uncharacterized LOC105370781 [Gene]
  • LOC105370783:uncharacterized LOC105370783 [Gene]
  • LOC145845:uncharacterized LOC145845 [Gene]
Variant type:
copy number loss
Cytogenetic location:
15q14
Genomic location:
Preferred name:
GRCh38/hg38 15q14(chr15:34995451-39735062)x1
HGVS:
  • NC_000015.10:g.(?_34995451)_(39735062_?)del
  • NC_000015.8:g.(?_33074944)_(37814555_?)del
  • NC_000015.9:g.(?_35287652)_(40027263_?)del
Links:
dbVar: nssv577501; dbVar: nsv529469
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000078223ISCA site 4

See additional submitters

criteria provided, single submitter

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

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, SCV000078223.4

#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