GRCh38/hg38 16p12.2(chr16:22755932-23546240)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:: RCV000053859.4

Allele description [Variation Report for GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3]

GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3

Genes:

LOC130058649:ATAC-STARR-seq lymphoblastoid active region 10575 [Gene]
LOC130058654:ATAC-STARR-seq lymphoblastoid active region 10576 [Gene]
LOC130058656:ATAC-STARR-seq lymphoblastoid active region 10577 [Gene]
LOC130058657:ATAC-STARR-seq lymphoblastoid active region 10578 [Gene]
LOC130058658:ATAC-STARR-seq lymphoblastoid active region 10580 [Gene]
LOC130058659:ATAC-STARR-seq lymphoblastoid active region 10581 [Gene]
LOC130058663:ATAC-STARR-seq lymphoblastoid active region 10582 [Gene]
LOC130058650:ATAC-STARR-seq lymphoblastoid silent region 7271 [Gene]
LOC130058651:ATAC-STARR-seq lymphoblastoid silent region 7272 [Gene]
LOC130058652:ATAC-STARR-seq lymphoblastoid silent region 7273 [Gene]
LOC130058653:ATAC-STARR-seq lymphoblastoid silent region 7274 [Gene]
LOC130058655:ATAC-STARR-seq lymphoblastoid silent region 7275 [Gene]
LOC130058660:ATAC-STARR-seq lymphoblastoid silent region 7276 [Gene]
LOC130058661:ATAC-STARR-seq lymphoblastoid silent region 7277 [Gene]
LOC130058662:ATAC-STARR-seq lymphoblastoid silent region 7278 [Gene]
LOC125146430:Sharpr-MPRA regulatory region 1348 [Gene]
LOC112340390:Sharpr-MPRA regulatory region 1793 [Gene]
LOC125146429:Sharpr-MPRA regulatory region 8546 [Gene]
COG7:component of oligomeric golgi complex 7 [Gene - OMIM - HGNC]
EARS2:glutamyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
GGA2:golgi associated, gamma adaptin ear containing, ARF binding protein 2 [Gene - OMIM - HGNC]
HS3ST2:heparan sulfate-glucosamine 3-sulfotransferase 2 [Gene - OMIM - HGNC]
SCNN1B:sodium channel epithelial 1 subunit beta [Gene - OMIM - HGNC]
SCNN1G:sodium channel epithelial 1 subunit gamma [Gene - OMIM - HGNC]
USP31:ubiquitin specific peptidase 31 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3

HGVS:

NC_000016.10:g.(?_22755932)_(23546240_?)dup
NC_000016.8:g.(?_22674754)_(23465062_?)dup
NC_000016.9:g.(?_22767253)_(23557561_?)dup

Links:

dbVar: nssv580890; dbVar: nsv532527

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
SCV000081222	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

SCV000081222

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, SCV000081222.4

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

Last Updated: Oct 14, 2023

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