GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)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:: RCV000053155.7

Allele description [Variation Report for GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3]

GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3

Genes:

ACOXL-AS1:ACOXL antisense RNA 1 [Gene - HGNC]
LOC129934557:ATAC-STARR-seq lymphoblastoid active region 16371 [Gene]
LOC129934558:ATAC-STARR-seq lymphoblastoid active region 16374 [Gene]
LOC129934559:ATAC-STARR-seq lymphoblastoid active region 16375 [Gene]
LOC129934560:ATAC-STARR-seq lymphoblastoid active region 16376 [Gene]
LOC129934561:ATAC-STARR-seq lymphoblastoid active region 16377 [Gene]
LOC129934562:ATAC-STARR-seq lymphoblastoid active region 16378 [Gene]
LOC129934563:ATAC-STARR-seq lymphoblastoid active region 16379 [Gene]
LOC129934564:ATAC-STARR-seq lymphoblastoid active region 16380 [Gene]
LOC129934565:ATAC-STARR-seq lymphoblastoid active region 16381 [Gene]
LOC129934568:ATAC-STARR-seq lymphoblastoid active region 16383 [Gene]
LOC129934569:ATAC-STARR-seq lymphoblastoid active region 16384 [Gene]
LOC129934571:ATAC-STARR-seq lymphoblastoid active region 16385 [Gene]
LOC129934572:ATAC-STARR-seq lymphoblastoid active region 16386 [Gene]
LOC129934573:ATAC-STARR-seq lymphoblastoid active region 16387 [Gene]
LOC129934576:ATAC-STARR-seq lymphoblastoid active region 16388 [Gene]
LOC129934577:ATAC-STARR-seq lymphoblastoid active region 16389 [Gene]
LOC129934578:ATAC-STARR-seq lymphoblastoid active region 16390 [Gene]
LOC129934566:ATAC-STARR-seq lymphoblastoid silent region 11865 [Gene]
LOC129934567:ATAC-STARR-seq lymphoblastoid silent region 11866 [Gene]
LOC129934570:ATAC-STARR-seq lymphoblastoid silent region 11867 [Gene]
LOC129934574:ATAC-STARR-seq lymphoblastoid silent region 11868 [Gene]
LOC129934575:ATAC-STARR-seq lymphoblastoid silent region 11869 [Gene]
LOC129934579:ATAC-STARR-seq lymphoblastoid silent region 11870 [Gene]
LOC129934580:ATAC-STARR-seq lymphoblastoid silent region 11871 [Gene]
BCL2L11:BCL2 like 11 [Gene - OMIM - HGNC]
BUB1:BUB1 mitotic checkpoint serine/threonine kinase [Gene - OMIM - HGNC]
LOC126806307:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:111556532-111557731 [Gene]
LOC115945185:CRISPRi-validated cis-regulatory element chr2.4107 [Gene]
MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
MIR4435-2HG:MIR4435-2 host gene [Gene - OMIM - HGNC]
LOC129388900:MPRA-validated peak3818 silencer [Gene]
LOC122817726:OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:112462827-112463612 and GRCh37_chr2:112463613-112464396 [Gene]
LOC126806308:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:111789964-111791163 [Gene]
LOC126806309:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:112252044-112253243 [Gene]
LOC122817727:Sharpr-MPRA regulatory region 10261 [Gene]
LOC122817723:Sharpr-MPRA regulatory region 12654 [Gene]
LOC112806037:Sharpr-MPRA regulatory region 3720 [Gene]
LOC122817725:Sharpr-MPRA regulatory region 6991 [Gene]
LOC120961779:Sharpr-MPRA regulatory region 7769 [Gene]
LOC122817724:Sharpr-MPRA regulatory region 8028 [Gene]
ACOXL:acyl-CoA oxidase like [Gene - HGNC]
ANAPC1:anaphase promoting complex subunit 1 [Gene - OMIM - HGNC]
FBLN7:fibulin 7 [Gene - OMIM - HGNC]
MIR4435-2:microRNA 4435-2 [Gene - HGNC]
MIR4771-2:microRNA 4771-2 [Gene - HGNC]
SOCAR:serous ovarian cancer associated RNA [Gene - HGNC]
SNORD132:small nucleolar RNA, C/D box 132 [Gene - HGNC]
TMEM87B:transmembrane protein 87B [Gene - OMIM - HGNC]
LOC105373559:uncharacterized LOC105373559 [Gene]
ZC3H6:zinc finger CCCH-type containing 6 [Gene - HGNC]
ZC3H8:zinc finger CCCH-type containing 8 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

2q13-14.1

Genomic location:

Preferred name:

GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3

HGVS:

NC_000002.12:g.(?_110634620)_(112345017_?)dup
NC_000002.10:g.(?_111108666)_(112819065_?)dup
NC_000002.11:g.(?_111392197)_(113102594_?)dup

Links:

dbVar: nssv580273; dbVar: nsv531837

Observations:

Condition(s)

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

Recent activity

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Mus musculus schwannoma-associated protein (SAM9) mRNA, complete cds
Mus musculus schwannoma-associated protein (SAM9) mRNA, complete cds
gi|2565395|gb|AF026124.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000080511	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Uncertain significance (Aug 12, 2011)	paternal	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

SCV000080511

GeneDx

criteria provided, single submitter

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

Uncertain significance
(Aug 12, 2011)

paternal

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	paternal	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, SCV000080511.6

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

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine