GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4 AND See cases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 10, 2011
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:: RCV000139198.4

Allele description [Variation Report for GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4]

GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4

Genes:

ADAM23:ADAM metallopeptidase domain 23 [Gene - OMIM - HGNC]
LOC129935466:ATAC-STARR-seq lymphoblastoid active region 17018 [Gene]
LOC129935467:ATAC-STARR-seq lymphoblastoid active region 17019 [Gene]
LOC129935468:ATAC-STARR-seq lymphoblastoid active region 17020 [Gene]
LOC129935469:ATAC-STARR-seq lymphoblastoid active region 17021 [Gene]
LOC129935473:ATAC-STARR-seq lymphoblastoid active region 17025 [Gene]
LOC129935474:ATAC-STARR-seq lymphoblastoid active region 17026 [Gene]
LOC129935465:ATAC-STARR-seq lymphoblastoid silent region 12261 [Gene]
LOC129935470:ATAC-STARR-seq lymphoblastoid silent region 12263 [Gene]
LOC129935471:ATAC-STARR-seq lymphoblastoid silent region 12264 [Gene]
LOC129935472:ATAC-STARR-seq lymphoblastoid silent region 12265 [Gene]
LOC129935475:ATAC-STARR-seq lymphoblastoid silent region 12266 [Gene]
LOC129935476:ATAC-STARR-seq lymphoblastoid silent region 12267 [Gene]
LOC129935477:ATAC-STARR-seq lymphoblastoid silent region 12269 [Gene]
LOC126806480:BRD4-independent group 4 enhancer GRCh37_chr2:206543139-206544338 [Gene]
LOC126806481:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:206617009-206618208 [Gene]
CMKLR2-AS:CMKLR2 antisense RNA [Gene - OMIM - HGNC]
INO80D:INO80 complex subunit D [Gene - OMIM - HGNC]
INO80D-AS1:INO80D antisense RNA 1 [Gene - HGNC]
LOC126806479:MED14-independent group 3 enhancer GRCh37_chr2:206099834-206101033 [Gene]
LOC129388987:MPRA-validated peak4024 silencer [Gene]
NDUFS1:NADH:ubiquinone oxidoreductase core subunit S1 [Gene - OMIM - HGNC]
LOC112806074:Sharpr-MPRA regulatory region 14521 [Gene]
LOC121725109:Sharpr-MPRA regulatory region 7385 [Gene]
LOC122861280:Sharpr-MPRA regulatory region 7917 [Gene]
CMKLR2:chemerin chemokine-like receptor 2 [Gene - OMIM - HGNC]
EEF1B2:eukaryotic translation elongation factor 1 beta 2 [Gene - OMIM - HGNC]
NRP2:neuropilin 2 [Gene - OMIM - HGNC]
PARD3B:par-3 family cell polarity regulator beta [Gene - OMIM - HGNC]
SNORD51:small nucleolar RNA, C/D box 51 [Gene - HGNC]
SNORA41:small nucleolar RNA, H/ACA box 41 [Gene - HGNC]
ZDBF2:zinc finger DBF-type containing 2 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

2q33.3

Genomic location:

Preferred name:

GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4

HGVS:

NC_000002.12:g.(?_205163962)_(206491669_?)dup
NC_000002.10:g.(?_205736931)_(207064638_?)dup
NC_000002.11:g.(?_206028686)_(207356393_?)dup

Links:

dbVar: nssv1603391; dbVar: nsv916597

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
SCV000179710	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely pathogenic (Oct 10, 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

SCV000179710

ISCA site 1

See additional submitters

no assertion criteria provided

Likely pathogenic
(Oct 10, 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

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 1, SCV000179710.4

#	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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