GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3 AND See cases

Germline classification:: Uncertain significance (2 submissions)
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:: RCV000148108.5

Allele description [Variation Report for GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3]

GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3

Genes:

LOC129992657:ATAC-STARR-seq lymphoblastoid active region 21599 [Gene]
LOC129992656:ATAC-STARR-seq lymphoblastoid silent region 15466 [Gene]
LOC129992658:ATAC-STARR-seq lymphoblastoid silent region 15467 [Gene]
LOC126807070:BRD4-independent group 4 enhancer GRCh37_chr4:69795178-69796377 [Gene]
LOC111589210:FOXA motif-containing MPRA enhancer 238 [Gene]
LOC126807071:MED14-independent group 3 enhancer GRCh37_chr4:70522042-70523241 [Gene]
LOC129389214:MPRA-validated peak5046 silencer [Gene]
LOC129389215:MPRA-validated peak5051 silencer [Gene]
LOC129389216:MPRA-validated peak5052 silencer [Gene]
LOC129389217:MPRA-validated peak5054 silencer [Gene]
LOC129389218:MPRA-validated peak5055 silencer [Gene]
LOC112978669:Sharpr-MPRA regulatory region 10246 [Gene]
UGT2A1:UDP glucuronosyltransferase family 2 member A1 complex locus [Gene - OMIM - HGNC]
UGT2A2:UDP glucuronosyltransferase family 2 member A2 [Gene - OMIM - HGNC]
UGT2A3:UDP glucuronosyltransferase family 2 member A3 [Gene - OMIM - HGNC]
UGT2B11:UDP glucuronosyltransferase family 2 member B11 [Gene - OMIM - HGNC]
UGT2B28:UDP glucuronosyltransferase family 2 member B28 [Gene - OMIM - HGNC]
UGT2B4:UDP glucuronosyltransferase family 2 member B4 [Gene - OMIM - HGNC]
UGT2B7:UDP glucuronosyltransferase family 2 member B7 [Gene - OMIM - HGNC]
LOC114803476:UGT2B7 (B) eExon liver enhancer [Gene]
SULT1B1:sulfotransferase family 1B member 1 [Gene - OMIM - HGNC]
SULT1E1:sulfotransferase family 1E member 1 [Gene - OMIM - HGNC]
LOC105377267:uncharacterized LOC105377267 [Gene]

Variant type:

copy number gain

Cytogenetic location:

4q13.2-13.3

Genomic location:

Preferred name:

GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3

HGVS:

NC_000004.12:g.(?_68852530)_(69850009_?)dup
NC_000004.10:g.(?_69752837)_(70750316_?)dup
NC_000004.11:g.(?_69718248)_(70715727_?)dup

Links:

dbVar: nssv581160; dbVar: nssv581181; dbVar: nsv1067773

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
SCV000078947	ISCA site 17 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	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]
SCV000175401	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely benign (May 6, 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

SCV000078947

ISCA site 17

See additional submitters

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]

SCV000175401

ISCA site 1

See additional submitters

no assertion criteria provided

Likely benign
(May 6, 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	2	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 17, SCV000078947.5

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

From ISCA site 1, SCV000175401.4

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

Last Updated: Oct 14, 2023

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