GRCh38/hg38 16q11.2-12.1(chr16:46466829-52314178)x3 AND See cases

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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:: RCV000052404.4

Allele description

GRCh38/hg38 16q11.2-12.1(chr16:46466829-52314178)x3

Genes:

ABCC11:ATP binding cassette subfamily C member 11 [Gene - OMIM - HGNC]
ABCC12:ATP binding cassette subfamily C member 12 [Gene - OMIM - HGNC]
CNEP1R1:CTD nuclear envelope phosphatase 1 regulatory subunit 1 [Gene - OMIM - HGNC]
CYLD:CYLD lysine 63 deubiquitinase [Gene - OMIM - HGNC]
DNAJA2:DnaJ heat shock protein family (Hsp40) member A2 [Gene - OMIM - HGNC]
HEATR3:HEAT repeat containing 3 [Gene - OMIM - HGNC]
ITFG1-AS1:ITFG1 antisense RNA 1 [Gene - HGNC]
N4BP1:NEDD4 binding protein 1 [Gene - HGNC]
SHCBP1:SHC binding and spindle associated 1 [Gene - OMIM - HGNC]
VPS35:VPS35, retromer complex component [Gene - OMIM - HGNC]
ADCY7:adenylate cyclase 7 [Gene - OMIM - HGNC]
BRD7:bromodomain containing 7 [Gene - HGNC]
CASC22:cancer susceptibility 22 (non-protein coding) [Gene - HGNC]
CBLN1:cerebellin 1 precursor [Gene - OMIM - HGNC]
C16orf78:chromosome 16 open reading frame 78 [Gene - HGNC]
C16orf87:chromosome 16 open reading frame 87 [Gene - HGNC]
C16orf97:chromosome 16 open reading frame 97 [Gene - HGNC]
GPT2:glutamic--pyruvic transaminase 2 [Gene - OMIM - HGNC]
ITFG1:integrin alpha FG-GAP repeat containing 1 [Gene - OMIM - HGNC]
LONP2:lon peptidase 2, peroxisomal [Gene - HGNC]
LINC01571:long intergenic non-protein coding RNA 1571 [Gene - HGNC]
LINC02127:long intergenic non-protein coding RNA 2127 [Gene - HGNC]
LINC02133:long intergenic non-protein coding RNA 2133 [Gene - HGNC]
LINC02134:long intergenic non-protein coding RNA 2134 [Gene - HGNC]
LINC02168:long intergenic non-protein coding RNA 2168 [Gene - HGNC]
LINC02178:long intergenic non-protein coding RNA 2178 [Gene - HGNC]
LINC02179:long intergenic non-protein coding RNA 2179 [Gene - HGNC]
LINC02180:long intergenic non-protein coding RNA 2180 [Gene - HGNC]
LINC02187:long intergenic non-protein coding RNA 2187 [Gene - HGNC]
LINC02192:long intergenic non-protein coding RNA 2192 [Gene - HGNC]
LINC00919:long intergenic non-protein coding RNA 919 [Gene - HGNC]
MIR3181:microRNA 3181 [Gene - HGNC]
MIR6771:microRNA 6771 [Gene - HGNC]
MYLK3:myosin light chain kinase 3 [Gene - OMIM - HGNC]
NKD1:naked cuticle homolog 1 [Gene - OMIM - HGNC]
NETO2:neuropilin and tolloid like 2 [Gene - OMIM - HGNC]
NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]
ORC6:origin recognition complex subunit 6 [Gene - OMIM - HGNC]
PHKB:phosphorylase kinase regulatory subunit beta [Gene - OMIM - HGNC]
PAPD5:poly(A) RNA polymerase D5, non-canonical [Gene - OMIM - HGNC]
SIAH1:siah E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
SNX20:sorting nexin 20 [Gene - OMIM - HGNC]
SALL1:spalt like transcription factor 1 [Gene - OMIM - HGNC]
LOC100507577:uncharacterized LOC100507577 [Gene]
LOC101927272:uncharacterized LOC101927272 [Gene]
ZNF423:zinc finger protein 423 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

16q11.2-12.1

Genomic location:

Preferred name:

GRCh38/hg38 16q11.2-12.1(chr16:46466829-52314178)x3

HGVS:

NC_000016.10:g.(?_46466829)_(52314178_?)dup
NC_000016.8:g.(?_45058242)_(50905591_?)dup
NC_000016.9:g.(?_46500741)_(52348090_?)dup

Links:

dbVar: nssv578712; dbVar: nsv531114

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
SCV000079756	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Submitter's publication)	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

SCV000079756

ISCA site 1

See additional submitters

criteria provided, single submitter

(Submitter's publication)

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 ISCA site 1, SCV000079756.4

#	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: Jul 15, 2017

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