GRCh38/hg38 15q26.3(chr15:100447986-101062436)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:: RCV000052139.5

Allele description [Variation Report for GRCh38/hg38 15q26.3(chr15:100447986-101062436)x3]

GRCh38/hg38 15q26.3(chr15:100447986-101062436)x3

Genes:

ALDH1A3-AS1:ALDH1A3 antisense RNA 1 [Gene - HGNC]
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]
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]
LOC126862253:BRD4-independent group 4 enhancer GRCh37_chr15:101262004-101263203 [Gene]
LOC126862254:BRD4-independent group 4 enhancer GRCh37_chr15:101342428-101343627 [Gene]
LOC126862255:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:101567313-101568512 [Gene]
LOC129390747:MPRA-validated peak2453 silencer [Gene]
LOC129390748:MPRA-validated peak2454 silencer [Gene]
LOC129390749:MPRA-validated peak2455 silencer [Gene]
LOC126862252:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:101253262-101254461 [Gene]
LOC125146368:Sharpr-MPRA regulatory region 13394 [Gene]
LOC121847965:Sharpr-MPRA regulatory region 1628 [Gene]
LOC112272574:Sharpr-MPRA regulatory region 9420 [Gene]
ALDH1A3:aldehyde dehydrogenase 1 family member A3 [Gene - OMIM - HGNC]
ASB7:ankyrin repeat and SOCS box containing 7 [Gene - OMIM - HGNC]
CERS3:ceramide synthase 3 [Gene - OMIM - HGNC]
GCAWKR:gastric cancer associated WDR5 and KAT2A binding lncRNA [Gene - HGNC]
LRRK1:leucine rich repeat kinase 1 [Gene - OMIM - HGNC]
LINS1:lines homolog 1 [Gene - OMIM - HGNC]
LOC102723335:uncharacterized LOC102723335 [Gene]

Variant type:

copy number gain

Cytogenetic location:

15q26.3

Genomic location:

Preferred name:

GRCh38/hg38 15q26.3(chr15:100447986-101062436)x3

HGVS:

NC_000015.10:g.(?_100447986)_(101062436_?)dup
NC_000015.8:g.(?_98805714)_(99420164_?)dup
NC_000015.9:g.(?_100988191)_(101602641_?)dup

Links:

dbVar: nssv580874; dbVar: nsv530850

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
SCV000079488	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Uncertain significance (Aug 12, 2011)	not provided	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

SCV000079488

GeneDx

criteria provided, single submitter

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

Uncertain significance
(Aug 12, 2011)

not provided

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	not provided	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, SCV000079488.5

#	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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Relating variation to medicine