GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 14, 2012
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:: RCV000138549.7

Allele description [Variation Report for GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3]

GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3

Genes:

LOC130059552:ATAC-STARR-seq lymphoblastoid active region 11231 [Gene]
LOC130059553:ATAC-STARR-seq lymphoblastoid silent region 7767 [Gene]
LOC130059554:ATAC-STARR-seq lymphoblastoid silent region 7769 [Gene]
LOC130059555:ATAC-STARR-seq lymphoblastoid silent region 7770 [Gene]
LOC130059556:ATAC-STARR-seq lymphoblastoid silent region 7771 [Gene]
LOC130059557:ATAC-STARR-seq lymphoblastoid silent region 7772 [Gene]
LOC130059558:ATAC-STARR-seq lymphoblastoid silent region 7773 [Gene]
LOC130059559:ATAC-STARR-seq lymphoblastoid silent region 7774 [Gene]
LOC126862421:BRD4-independent group 4 enhancer GRCh37_chr16:83850559-83851758 [Gene]
CDH13-AS2:CDH13 antisense RNA 2 [Gene - HGNC]
CEDORA:CDH13 antisense oligodendrocyte and neuron associated lncRNA [Gene - HGNC]
LOC126862422:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:83945234-83946433 [Gene]
LOC129390813:MPRA-validated peak2652 silencer [Gene]
NECAB2:N-terminal EF-hand calcium binding protein 2 [Gene - OMIM - HGNC]
LOC132090436:Neanderthal introgressed variant-containing enhancer experimental_46306 [Gene]
LOC121847994:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:83566380-83567579 [Gene]
LOC125177363:Sharpr-MPRA regulatory region 13657 [Gene]
CDH13:cadherin 13 [Gene - OMIM - HGNC]
HSBP1:heat shock factor binding protein 1 [Gene - OMIM - HGNC]
MLYCD:malonyl-CoA decarboxylase [Gene - OMIM - HGNC]
MIR3182:microRNA 3182 [Gene - HGNC]
OSGIN1:oxidative stress induced growth inhibitor 1 [Gene - OMIM - HGNC]
SLC38A8:solute carrier family 38 member 8 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

16q23.3

Genomic location:

Preferred name:

GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3

HGVS:

NC_000016.10:g.(?_83478453)_(84036483_?)dup
NC_000016.8:g.(?_82069559)_(82627589_?)dup
NC_000016.9:g.(?_83512058)_(84070088_?)dup

Links:

dbVar: nssv1601988; dbVar: nsv915811

Observations:

Condition(s)

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

Recent activity

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retinoic acid receptor alpha isoform X2 [Phocoena sinus]
retinoic acid receptor alpha isoform X2 [Phocoena sinus]
gi|1814771440|ref|XP_032471065.1|

Protein
Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA
Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA
gi|154124878|ref|NM_030615.2|

Nucleotide
Homo sapiens adenosine deaminase 2 (ADA2), transcript variant 2, mRNA
Homo sapiens adenosine deaminase 2 (ADA2), transcript variant 2, mRNA
gi|1676441543|ref|NM_177405.3|

Nucleotide
Homo sapiens mRNA for kinesin-like protein, complete cds
Homo sapiens mRNA for kinesin-like protein, complete cds
gi|6539425|dbj|AB012722.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000178907	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (May 14, 2012)	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

SCV000178907

ISCA site 1

See additional submitters

no assertion criteria provided

Uncertain significance
(May 14, 2012)

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 1, SCV000178907.4

#	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	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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