GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3 AND 16p11.2 duplication syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 3, 2022
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:: RCV001801338.2

Allele description [Variation Report for GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3]

GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3

Genes:

CDIPT:CDP-diacylglycerol--inositol 3-phosphatidyltransferase [Gene - OMIM - HGNC]
HIRIP3:HIRA interacting protein 3 [Gene - OMIM - HGNC]
INO80E:INO80 complex subunit E [Gene - HGNC]
MAZ:MYC associated zinc finger protein [Gene - OMIM - HGNC]
PAGR1:PAXIP1 associated glutamate rich protein 1 [Gene - OMIM - HGNC]
TBX6:T-box transcription factor 6 [Gene - OMIM - HGNC]
TAOK2:TAO kinase 2 [Gene - OMIM - HGNC]
TLCD3B:TLC domain containing 3B [Gene - OMIM - HGNC]
ALDOA:aldolase, fructose-bisphosphate A [Gene - OMIM - HGNC]
ASPHD1:aspartate beta-hydroxylase domain containing 1 [Gene - HGNC]
C16orf54:chromosome 16 open reading frame 54 [Gene - HGNC]
C16orf92:chromosome 16 open reading frame 92 [Gene - OMIM - HGNC]
CORO1A:coronin 1A [Gene - OMIM - HGNC]
DOC2A:double C2 domain alpha [Gene - OMIM - HGNC]
GDPD3:glycerophosphodiester phosphodiesterase domain containing 3 [Gene - OMIM - HGNC]
KIF22:kinesin family member 22 [Gene - OMIM - HGNC]
MVP:major vault protein [Gene - OMIM - HGNC]
MAPK3:mitogen-activated protein kinase 3 [Gene - OMIM - HGNC]
KCTD13:potassium channel tetramerization domain containing 13 [Gene - OMIM - HGNC]
PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]
PPP4C:protein phosphatase 4 catalytic subunit [Gene - OMIM - HGNC]
QPRT:quinolinate phosphoribosyltransferase [Gene - OMIM - HGNC]
SEZ6L2:seizure related 6 homolog like 2 [Gene - OMIM - HGNC]
SPN:sialophorin [Gene - OMIM - HGNC]
TMEM219:transmembrane protein 219 [Gene - OMIM - HGNC]
YPEL3:yippee like 3 [Gene - OMIM - HGNC]
ZG16:zymogen granule protein 16 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

16p11.2

Genomic location:

Chr16: 29590554 - 30197341 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3

HGVS:

Observations:

Condition(s)

Name:: 16p11.2 duplication syndrome
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002047460	Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ	no assertion criteria provided	Pathogenic (Jan 3, 2022)	maternal	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20301775, 26629640, 21731881

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002047460

Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ

no assertion criteria provided

Pathogenic
(Jan 3, 2022)

maternal

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

16p11.2 Recurrent Deletion.

Taylor CM, Smith R, Lehman C, Mitchel MW, Singer K, Weaver WC, Chung W.

2009 Sep 22 [updated 2021 Oct 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301775

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, et al.

JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123.

PubMed [citation]

PMID:: 26629640
PMCID:: PMC5894477

See all PubMed Citations (3)

Details of each submission

From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV002047460.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 1, 2023

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