GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 30, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000136768.5

Allele description [Variation Report for GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3]

GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3

Genes:

LOC129937654:ATAC-STARR-seq lymphoblastoid active region 20605 [Gene]
LOC129937655:ATAC-STARR-seq lymphoblastoid active region 20606 [Gene]
LOC129937659:ATAC-STARR-seq lymphoblastoid active region 20607 [Gene]
LOC129937660:ATAC-STARR-seq lymphoblastoid active region 20608 [Gene]
LOC129937661:ATAC-STARR-seq lymphoblastoid active region 20611 [Gene]
LOC129937662:ATAC-STARR-seq lymphoblastoid active region 20615 [Gene]
LOC129937656:ATAC-STARR-seq lymphoblastoid silent region 14766 [Gene]
LOC129937657:ATAC-STARR-seq lymphoblastoid silent region 14767 [Gene]
LOC129937658:ATAC-STARR-seq lymphoblastoid silent region 14768 [Gene]
LOC129937663:ATAC-STARR-seq lymphoblastoid silent region 14769 [Gene]
LOC129937664:ATAC-STARR-seq lymphoblastoid silent region 14770 [Gene]
LOC129937665:ATAC-STARR-seq lymphoblastoid silent region 14771 [Gene]
LOC126806823:BRD4-independent group 4 enhancer GRCh37_chr3:139191689-139192888 [Gene]
LOC126806824:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:139256460-139257659 [Gene]
COPB2-DT:COPB2 divergent transcript [Gene - HGNC]
COPB2:COPI coat complex subunit beta 2 [Gene - OMIM - HGNC]
LOC115995523:CRISPRi-validated cis-regulatory element chr3.4087 [Gene]
FOXL2NB:FOXL2 neighbor [Gene - HGNC]
FAIM:Fas apoptotic inhibitory molecule [Gene - OMIM - HGNC]
LOC129389142:MPRA-validated peak4845 silencer [Gene]
LOC129389143:MPRA-validated peak4849 silencer [Gene]
PISRT1:PISRT1 lncRNA [Gene - HGNC]
LOC112903840:Sharpr-MPRA regulatory region 1318 [Gene]
LOC123038192:Sharpr-MPRA regulatory region 1798 [Gene]
LOC121048713:Sharpr-MPRA regulatory region 3980 [Gene]
LOC112903839:Sharpr-MPRA regulatory region 3993 [Gene]
LOC121048714:Sharpr-MPRA regulatory region 7279 [Gene]
LOC121048712:Sharpr-MPRA regulatory region 8152 [Gene]
LOC123038193:Sharpr-MPRA regulatory region 9070 [Gene]
BPESC1:blepharophimosis, epicanthus inversus and ptosis candidate 1 [Gene - OMIM - HGNC]
CLSTN2:calsyntenin 2 [Gene - OMIM - HGNC]
FOXL2:forkhead box L2 [Gene - OMIM - HGNC]
LINC01391:long intergenic non-protein coding RNA 1391 [Gene - HGNC]
MRPS22:mitochondrial ribosomal protein S22 [Gene - OMIM - HGNC]
NMNAT3:nicotinamide nucleotide adenylyltransferase 3 [Gene - OMIM - HGNC]
PIK3CB:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta [Gene - OMIM - HGNC]
PRR23A:proline rich 23A [Gene - HGNC]
PRR23B:proline rich 23B [Gene - HGNC]
PRR23C:proline rich 23C [Gene - HGNC]
RBP1:retinol binding protein 1 [Gene - OMIM - HGNC]
RBP2:retinol binding protein 2 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

3q22.3-23

Genomic location:

Preferred name:

GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3

HGVS:

NC_000003.12:g.(?_138629115)_(140055056_?)dup
NC_000003.10:g.(?_139830647)_(141256588_?)dup
NC_000003.11:g.(?_138347957)_(139773898_?)dup

Links:

dbVar: nssv582146; dbVar: nsv534112

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
SCV000176889	ISCA site 8 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Jan 30, 2010)	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

SCV000176889

ISCA site 8

See additional submitters

no assertion criteria provided

Pathogenic
(Jan 30, 2010)

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

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 8, SCV000176889.3

#	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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