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GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3 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:
RCV000051157.7

Allele description [Variation Report for GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3]

GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3

Genes:
  • LOC106736481:15q13 distal microdeletion recombination region [Gene]
  • ARHGAP11A-DT:ARHGAP11A divergent transcript [Gene - HGNC]
  • ARHGAP11A-SCG5:ARHGAP11A-SCG5 readthrough [Gene - HGNC]
  • LOC130056728:ATAC-STARR-seq lymphoblastoid active region 9167 [Gene]
  • LOC130056730:ATAC-STARR-seq lymphoblastoid active region 9168 [Gene]
  • LOC130056731:ATAC-STARR-seq lymphoblastoid active region 9169 [Gene]
  • LOC130056733:ATAC-STARR-seq lymphoblastoid active region 9170 [Gene]
  • LOC130056734:ATAC-STARR-seq lymphoblastoid active region 9171 [Gene]
  • LOC130056735:ATAC-STARR-seq lymphoblastoid active region 9172 [Gene]
  • LOC130056741:ATAC-STARR-seq lymphoblastoid active region 9174 [Gene]
  • LOC130056743:ATAC-STARR-seq lymphoblastoid active region 9175 [Gene]
  • LOC130056744:ATAC-STARR-seq lymphoblastoid active region 9176 [Gene]
  • LOC130056745:ATAC-STARR-seq lymphoblastoid active region 9177 [Gene]
  • LOC130056746:ATAC-STARR-seq lymphoblastoid active region 9178 [Gene]
  • LOC130056747:ATAC-STARR-seq lymphoblastoid active region 9179 [Gene]
  • LOC130056754:ATAC-STARR-seq lymphoblastoid active region 9181 [Gene]
  • LOC130056762:ATAC-STARR-seq lymphoblastoid active region 9183 [Gene]
  • LOC130056763:ATAC-STARR-seq lymphoblastoid active region 9184 [Gene]
  • LOC130056764:ATAC-STARR-seq lymphoblastoid active region 9185 [Gene]
  • LOC130056765:ATAC-STARR-seq lymphoblastoid active region 9186 [Gene]
  • LOC130056766:ATAC-STARR-seq lymphoblastoid active region 9187 [Gene]
  • LOC130056767:ATAC-STARR-seq lymphoblastoid active region 9190 [Gene]
  • LOC130056729:ATAC-STARR-seq lymphoblastoid silent region 6269 [Gene]
  • LOC130056732:ATAC-STARR-seq lymphoblastoid silent region 6271 [Gene]
  • LOC130056736:ATAC-STARR-seq lymphoblastoid silent region 6272 [Gene]
  • LOC130056737:ATAC-STARR-seq lymphoblastoid silent region 6273 [Gene]
  • LOC130056738:ATAC-STARR-seq lymphoblastoid silent region 6274 [Gene]
  • LOC130056739:ATAC-STARR-seq lymphoblastoid silent region 6275 [Gene]
  • LOC130056740:ATAC-STARR-seq lymphoblastoid silent region 6276 [Gene]
  • LOC130056742:ATAC-STARR-seq lymphoblastoid silent region 6277 [Gene]
  • LOC130056748:ATAC-STARR-seq lymphoblastoid silent region 6278 [Gene]
  • LOC130056749:ATAC-STARR-seq lymphoblastoid silent region 6279 [Gene]
  • LOC130056750:ATAC-STARR-seq lymphoblastoid silent region 6280 [Gene]
  • LOC130056751:ATAC-STARR-seq lymphoblastoid silent region 6281 [Gene]
  • LOC130056752:ATAC-STARR-seq lymphoblastoid silent region 6282 [Gene]
  • LOC130056753:ATAC-STARR-seq lymphoblastoid silent region 6283 [Gene]
  • LOC130056755:ATAC-STARR-seq lymphoblastoid silent region 6285 [Gene]
  • LOC130056756:ATAC-STARR-seq lymphoblastoid silent region 6286 [Gene]
  • LOC130056757:ATAC-STARR-seq lymphoblastoid silent region 6287 [Gene]
  • LOC130056758:ATAC-STARR-seq lymphoblastoid silent region 6288 [Gene]
  • LOC130056759:ATAC-STARR-seq lymphoblastoid silent region 6289 [Gene]
  • LOC130056760:ATAC-STARR-seq lymphoblastoid silent region 6290 [Gene]
  • LOC130056761:ATAC-STARR-seq lymphoblastoid silent region 6291 [Gene]
  • LOC126862092:BRD4-independent group 4 enhancer GRCh37_chr15:33837506-33838705 [Gene]
  • LOC126862098:BRD4-independent group 4 enhancer GRCh37_chr15:34645972-34647171 [Gene]
  • LOC126862094:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34145183-34146382 [Gene]
  • LOC126862095:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34150522-34151721 [Gene]
  • EMC4:ER membrane protein complex subunit 4 [Gene - OMIM - HGNC]
  • EMC7:ER membrane protein complex subunit 7 [Gene - OMIM - HGNC]
  • GJD2-DT:GJD2 divergent transcript [Gene - HGNC]
  • GREM1-AS1:GREM1 antisense RNA 1 [Gene - HGNC]
  • LOC126862091:MED14-independent group 3 enhancer GRCh37_chr15:33437521-33438720 [Gene]
  • LOC126862093:MED14-independent group 3 enhancer GRCh37_chr15:34012814-34014013 [Gene]
  • LOC126862099:MED14-independent group 3 enhancer GRCh37_chr15:34974212-34975411 [Gene]
  • LOC126862100:MED14-independent group 3 enhancer GRCh37_chr15:35166353-35167552 [Gene]
  • LOC129390682:MPRA-validated peak2290 silencer [Gene]
  • LOC129390683:MPRA-validated peak2292 silencer [Gene]
  • LOC129390684:MPRA-validated peak2294 silencer [Gene]
  • NOP10:NOP10 ribonucleoprotein [Gene - OMIM - HGNC]
  • NUTM1:NUT midline carcinoma family member 1 [Gene - OMIM - HGNC]
  • NANOGP8:Nanog homeobox retrogene P8 [Gene - HGNC]
  • LOC132090300:Neanderthal introgressed variant-containing enhancer experimental_39317 [Gene]
  • LOC126862090:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:33065769-33066968 [Gene]
  • LOC126862096:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:34446570-34447769 [Gene]
  • LOC126862097:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:34531007-34532206 [Gene]
  • LOC126862101:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:35285419-35286618 [Gene]
  • RYR3-DT:RYR3 divergent transcript [Gene - HGNC]
  • ARHGAP11A:Rho GTPase activating protein 11A [Gene - OMIM - HGNC]
  • SCG5-AS1:SCG5 antisense RNA 1 [Gene - HGNC]
  • LOC113939943:Sharpr-MPRA regulatory region 12620 [Gene]
  • LOC125078055:Sharpr-MPRA regulatory region 15538 [Gene]
  • LOC125078054:Sharpr-MPRA regulatory region 2498 [Gene]
  • LOC112272583:Sharpr-MPRA regulatory region 9988 [Gene]
  • ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]
  • AVEN:apoptosis and caspase activation inhibitor [Gene - OMIM - HGNC]
  • AQR:aquarius intron-binding spliceosomal factor [Gene - OMIM - HGNC]
  • CHRM5:cholinergic receptor muscarinic 5 [Gene - OMIM - HGNC]
  • DPH6:diphthamine biosynthesis 6 [Gene - OMIM - HGNC]
  • FMN1:formin 1 [Gene - OMIM - HGNC]
  • GJD2:gap junction protein delta 2 [Gene - OMIM - HGNC]
  • GOLGA8A:golgin A8 family member A [Gene - OMIM - HGNC]
  • GOLGA8B:golgin A8 family member B [Gene - OMIM - HGNC]
  • GREM1:gremlin 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • LOC108004527:heart enhancer 26 [Gene]
  • KATNBL1:katanin regulatory subunit B1 like 1 [Gene - OMIM - HGNC]
  • LINC02252:long intergenic non-protein coding RNA 2252 [Gene - HGNC]
  • LPCAT4:lysophosphatidylcholine acyltransferase 4 [Gene - OMIM - HGNC]
  • MIR1233-1:microRNA 1233-1 [Gene - HGNC]
  • MIR1233-2:microRNA 1233-2 [Gene - HGNC]
  • PGBD4:piggyBac transposable element derived 4 [Gene - HGNC]
  • RYR3:ryanodine receptor 3 [Gene - OMIM - HGNC]
  • SCG5:secretogranin V [Gene - OMIM - HGNC]
  • SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]
  • LOC105370764:uncharacterized LOC105370764 [Gene]
  • ZNF770:zinc finger protein 770 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
15q13.3-14
Genomic location:
Preferred name:
GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3
HGVS:
  • NC_000015.10:g.(?_32607298)_(35200429_?)dup
  • NC_000015.8:g.(?_30686791)_(33279922_?)dup
  • NC_000015.9:g.(?_32899499)_(35492630_?)dup
Links:
dbVar: nssv578685; dbVar: nsv529702
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
SCV000078500ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(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, SCV000078500.5

#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