GRCh38/hg38 8p23.1-22(chr8:12383108-12809999)x3 AND See cases

Germline classification:: Benign (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:: RCV000053673.5

Allele description [Variation Report for GRCh38/hg38 8p23.1-22(chr8:12383108-12809999)x3]

GRCh38/hg38 8p23.1-22(chr8:12383108-12809999)x3

Genes:

LOC129999916:ATAC-STARR-seq lymphoblastoid active region 27041 [Gene]
LOC129999917:ATAC-STARR-seq lymphoblastoid active region 27042 [Gene]
LOC129999920:ATAC-STARR-seq lymphoblastoid active region 27043 [Gene]
LOC129999921:ATAC-STARR-seq lymphoblastoid active region 27044 [Gene]
LOC129999922:ATAC-STARR-seq lymphoblastoid active region 27045 [Gene]
LOC129999915:ATAC-STARR-seq lymphoblastoid silent region 18949 [Gene]
LOC129999918:ATAC-STARR-seq lymphoblastoid silent region 18950 [Gene]
LOC129999919:ATAC-STARR-seq lymphoblastoid silent region 18951 [Gene]
FAM86B2-DT:FAM86B2 divergent transcript [Gene - HGNC]
LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
LOC124049165:Sharpr-MPRA regulatory region 3896 [Gene]
LOC111818956:Sharpr-MPRA regulatory regions 5244/11724 and 13137 [Gene]
FAM66A:family with sequence similarity 66 member A [Gene - HGNC]
FAM86B2:family with sequence similarity 86 member B2 [Gene - OMIM - HGNC]
LINC03019:long intergenic non-protein coding RNA 3019 [Gene - HGNC]
LINC00681:long intergenic non-protein coding RNA 681 [Gene - HGNC]
MIR3926-1:microRNA 3926-1 [Gene - HGNC]
MIR3926-2:microRNA 3926-2 [Gene - HGNC]
MIR5692A2:microRNA 5692a-2 [Gene - HGNC]
LOC729732:uncharacterized LOC729732 [Gene]

Variant type:

copy number gain

Cytogenetic location:

8p23.1-22

Genomic location:

Preferred name:

GRCh38/hg38 8p23.1-22(chr8:12383108-12809999)x3

HGVS:

NC_000008.11:g.(?_12383108)_(12809999_?)dup
NC_000008.10:g.(?_12240617)_(12667508_?)dup
NC_000008.9:g.(?_12284988)_(12711879_?)dup

Links:

dbVar: nssv579572; dbVar: nsv532336

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
SCV000081036	ISCA site 15 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Benign (Aug 12, 2011)	unknown	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

SCV000081036

ISCA site 15

See additional submitters

criteria provided, single submitter

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

Benign
(Aug 12, 2011)

unknown

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 ISCA site 15, SCV000081036.4

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

Last Updated: May 7, 2024

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