GRCh38/hg38 15q25.3(chr15:85185563-85639683)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:: RCV000052132.6

Allele description [Variation Report for GRCh38/hg38 15q25.3(chr15:85185563-85639683)x3]

GRCh38/hg38 15q25.3(chr15:85185563-85639683)x3

Genes:

AKAP13:A-kinase anchoring protein 13 [Gene - OMIM - HGNC]
LOC130057826:ATAC-STARR-seq lymphoblastoid active region 10002 [Gene]
LOC130057827:ATAC-STARR-seq lymphoblastoid active region 10003 [Gene]
LOC130057828:ATAC-STARR-seq lymphoblastoid active region 10004 [Gene]
LOC130057829:ATAC-STARR-seq lymphoblastoid active region 10005 [Gene]
LOC130057830:ATAC-STARR-seq lymphoblastoid active region 10006 [Gene]
LOC130057831:ATAC-STARR-seq lymphoblastoid active region 10007 [Gene]
LOC130057832:ATAC-STARR-seq lymphoblastoid active region 10008 [Gene]
LOC130057833:ATAC-STARR-seq lymphoblastoid active region 10009 [Gene]
LOC130057834:ATAC-STARR-seq lymphoblastoid active region 10010 [Gene]
LOC130057836:ATAC-STARR-seq lymphoblastoid active region 10011 [Gene]
LOC130057837:ATAC-STARR-seq lymphoblastoid active region 10012 [Gene]
LOC130057838:ATAC-STARR-seq lymphoblastoid active region 10013 [Gene]
LOC130057839:ATAC-STARR-seq lymphoblastoid active region 10014 [Gene]
LOC130057842:ATAC-STARR-seq lymphoblastoid active region 10015 [Gene]
LOC130057843:ATAC-STARR-seq lymphoblastoid active region 10016 [Gene]
LOC130057844:ATAC-STARR-seq lymphoblastoid active region 10017 [Gene]
LOC130057835:ATAC-STARR-seq lymphoblastoid silent region 6779 [Gene]
LOC130057840:ATAC-STARR-seq lymphoblastoid silent region 6781 [Gene]
LOC130057841:ATAC-STARR-seq lymphoblastoid silent region 6782 [Gene]
LOC130057845:ATAC-STARR-seq lymphoblastoid silent region 6783 [Gene]
LOC130057846:ATAC-STARR-seq lymphoblastoid silent region 6784 [Gene]
LOC112272622:BRD4-independent group 4 enhancer GRCh37_chr15:85956328-85957527 [Gene]
LOC126862205:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:85880057-85881256 [Gene]
LOC132090358:Neanderthal introgressed variant-containing enhancer experimental_42066 [Gene]
LOC132090359:Neanderthal introgressed variant-containing enhancer experimental_42228 [Gene]
LOC132090360:Neanderthal introgressed variant-containing enhancer experimental_42230 [Gene]
LOC132090361:Neanderthal introgressed variant-containing enhancer experimental_42240 [Gene]
LOC132090362:Neanderthal introgressed variant-containing enhancer experimental_42264 [Gene]
LOC125138301:Sharpr-MPRA regulatory region 6632 [Gene]
MIR7706:microRNA 7706 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

15q25.3

Genomic location:

Preferred name:

GRCh38/hg38 15q25.3(chr15:85185563-85639683)x3

HGVS:

NC_000015.10:g.(?_85185563)_(85639683_?)dup
NC_000015.8:g.(?_83529798)_(83983918_?)dup
NC_000015.9:g.(?_85728794)_(86182914_?)dup

Links:

dbVar: nssv580868; dbVar: nsv530843

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000079481	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Uncertain significance (Aug 12, 2011)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000079481

GeneDx

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Uncertain significance
(Aug 12, 2011)

maternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	not provided	not provided	not provided	not provided	clinical 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, SCV000079481.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine