GRCh38/hg38 2p15(chr2:61515438-62305848)x1 AND See cases

Germline classification:: Pathogenic (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:: RCV000054053.4

Allele description [Variation Report for GRCh38/hg38 2p15(chr2:61515438-62305848)x1]

GRCh38/hg38 2p15(chr2:61515438-62305848)x1

Genes:

LOC129933835:ATAC-STARR-seq lymphoblastoid active region 15831 [Gene]
LOC129933836:ATAC-STARR-seq lymphoblastoid active region 15832 [Gene]
LOC129933837:ATAC-STARR-seq lymphoblastoid active region 15833 [Gene]
LOC129933838:ATAC-STARR-seq lymphoblastoid active region 15834 [Gene]
LOC129933839:ATAC-STARR-seq lymphoblastoid active region 15835 [Gene]
LOC129933841:ATAC-STARR-seq lymphoblastoid active region 15836 [Gene]
LOC129933842:ATAC-STARR-seq lymphoblastoid active region 15838 [Gene]
LOC129933843:ATAC-STARR-seq lymphoblastoid active region 15839 [Gene]
LOC129933844:ATAC-STARR-seq lymphoblastoid active region 15840 [Gene]
LOC129933845:ATAC-STARR-seq lymphoblastoid active region 15841 [Gene]
LOC129933847:ATAC-STARR-seq lymphoblastoid active region 15843 [Gene]
LOC129933848:ATAC-STARR-seq lymphoblastoid active region 15844 [Gene]
LOC129933849:ATAC-STARR-seq lymphoblastoid active region 15845 [Gene]
LOC129933850:ATAC-STARR-seq lymphoblastoid active region 15846 [Gene]
LOC129933851:ATAC-STARR-seq lymphoblastoid active region 15848 [Gene]
LOC129933852:ATAC-STARR-seq lymphoblastoid active region 15849 [Gene]
LOC129933855:ATAC-STARR-seq lymphoblastoid active region 15850 [Gene]
LOC129933857:ATAC-STARR-seq lymphoblastoid active region 15851 [Gene]
LOC129933858:ATAC-STARR-seq lymphoblastoid active region 15852 [Gene]
LOC129933840:ATAC-STARR-seq lymphoblastoid silent region 11531 [Gene]
LOC129933846:ATAC-STARR-seq lymphoblastoid silent region 11532 [Gene]
LOC129933853:ATAC-STARR-seq lymphoblastoid silent region 11533 [Gene]
LOC129933854:ATAC-STARR-seq lymphoblastoid silent region 11535 [Gene]
LOC129933856:ATAC-STARR-seq lymphoblastoid silent region 11536 [Gene]
FAM161A:FAM161 centrosomal protein A [Gene - OMIM - HGNC]
LOC129388870:MPRA-validated peak3721 silencer [Gene]
LOC129388871:MPRA-validated peak3722 silencer [Gene]
LOC129388872:MPRA-validated peak3724 silencer [Gene]
LOC122757952:Sharpr-MPRA regulatory region 11227 [Gene]
B3GNT2:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 [Gene - OMIM - HGNC]
CCT4:chaperonin containing TCP1 subunit 4 [Gene - OMIM - HGNC]
COMMD1:copper metabolism domain containing 1 [Gene - OMIM - HGNC]
XPO1:exportin 1 [Gene - OMIM - HGNC]
MIR5192:microRNA 5192 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2p15

Genomic location:

Preferred name:

GRCh38/hg38 2p15(chr2:61515438-62305848)x1

HGVS:

NC_000002.12:g.(?_61515438)_(62305848_?)del
NC_000002.10:g.(?_61596077)_(62386487_?)del
NC_000002.11:g.(?_61742573)_(62532983_?)del

Links:

dbVar: nssv577704; dbVar: nsv532721

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
SCV000081416	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Pathogenic (Aug 12, 2011)	de novo	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

SCV000081416

GeneDx

criteria provided, single submitter

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

Pathogenic
(Aug 12, 2011)

de novo

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	de novo	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, SCV000081416.4

#	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	de novo	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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