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

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000052404.3

Allele description [Variation Report for GRCh38/hg38 16q11.2-12.1(chr16:46466829-52314178)x3]

Genes:
  • ADCY7:adenylate cyclase 7 [Gene - OMIM]
  • CBLN1:cerebellin 1 precursor [Gene - OMIM]
  • CYLD:cylindromatosis (turban tumor syndrome) [Gene - OMIM]
  • PHKB:phosphorylase kinase, beta [Gene - OMIM]
  • SALL1:spalt-like transcription factor 1 [Gene - OMIM]
  • SIAH1:siah E3 ubiquitin protein ligase 1 [Gene - OMIM]
  • N4BP1:NEDD4 binding protein 1 [Gene]
  • DNAJA2:DnaJ (Hsp40) homolog, subfamily A, member 2 [Gene - OMIM]
  • ZNF423:zinc finger protein 423 [Gene - OMIM]
  • ORC6:origin recognition complex, subunit 6 [Gene - OMIM]
  • BRD7:bromodomain containing 7 [Gene]
  • HEATR3:HEAT repeat containing 3 [Gene - OMIM]
  • VPS35:vacuolar protein sorting 35 homolog (S. cerevisiae) [Gene - OMIM]
  • NOD2:nucleotide-binding oligomerization domain containing 2 [Gene - OMIM]
  • PAPD5:PAP associated domain containing 5 [Gene - OMIM]
  • SHCBP1:SHC SH2-domain binding protein 1 [Gene - OMIM]
  • ITFG1:integrin alpha FG-GAP repeat containing 1 [Gene - OMIM]
  • NETO2:neuropilin (NRP) and tolloid (TLL)-like 2 [Gene - OMIM]
  • LONP2:lon peptidase 2, peroxisomal [Gene]
  • GPT2:glutamic pyruvate transaminase (alanine aminotransferase) 2 [Gene - OMIM]
  • ABCC11:ATP-binding cassette, sub-family C (CFTR/MRP), member 11 [Gene - OMIM]
  • NKD1:naked cuticle homolog 1 (Drosophila) [Gene - OMIM]
  • MYLK3:myosin light chain kinase 3 [Gene - OMIM]
  • ABCC12:ATP-binding cassette, sub-family C (CFTR/MRP), member 12 [Gene - OMIM]
  • C16orf78:chromosome 16 open reading frame 78 [Gene]
  • SNX20:sorting nexin 20 [Gene - OMIM]
  • CNEP1R1:CTD nuclear envelope phosphatase 1 regulatory subunit 1 [Gene]
  • C16orf87:chromosome 16 open reading frame 87 [Gene]
  • C16orf97:chromosome 16 open reading frame 97 [Gene]
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_000016.9:g.(?_46500741)_(52348090_?)dup
Links:
dbVar: nsv531114
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000079756ISCA site 1classified by single submitterPathogenic
(Aug 12, 2011)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical 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, SCV000079756.3

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Nov 29, 2014

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