GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 12, 2018
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:: RCV000790566.1

Allele description [Variation Report for GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3]

GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3

Genes:

BDH1:3-hydroxybutyrate dehydrogenase 1 [Gene - OMIM - HGNC]
ATP13A3:ATPase 13A3 [Gene - OMIM - HGNC]
ATP13A4:ATPase 13A4 [Gene - OMIM - HGNC]
ATP13A5:ATPase 13A5 [Gene - OMIM - HGNC]
ACAP2:ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 [Gene - OMIM - HGNC]
FBXO45:F-box protein 45 [Gene - OMIM - HGNC]
IQCG:IQ motif containing G [Gene - OMIM - HGNC]
LPP:LIM domain containing preferred translocation partner in lipoma [Gene - OMIM - HGNC]
MB21D2:Mab-21 domain containing 2 [Gene - HGNC]
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
SENP5:SUMO specific peptidase 5 [Gene - OMIM - HGNC]
TNK2-AS1:TNK2 antisense RNA 1 [Gene - HGNC]
UBXN7:UBX domain protein 7 [Gene - OMIM - HGNC]
WDR53:WD repeat domain 53 [Gene - OMIM - HGNC]
APOD:apolipoprotein D [Gene - OMIM - HGNC]
CPN2:carboxypeptidase N subunit 2 [Gene - OMIM - HGNC]
CEP19:centrosomal protein 19 [Gene - OMIM - HGNC]
CLDN16:claudin 16 [Gene - OMIM - HGNC]
CLDN1:claudin 1 [Gene - OMIM - HGNC]
CCDC50:coiled-coil domain containing 50 [Gene - OMIM - HGNC]
DLG1:discs large MAGUK scaffold protein 1 [Gene - OMIM - HGNC]
DYNLT2B:dynein light chain Tctex-type 2B [Gene - OMIM - HGNC]
FAM43A:family with sequence similarity 43 member A [Gene - HGNC]
FGF12:fibroblast growth factor 12 [Gene - OMIM - HGNC]
FYTTD1:forty-two-three domain containing 1 [Gene - OMIM - HGNC]
GMNC:geminin coiled-coil domain containing [Gene - OMIM - HGNC]
GP5:glycoprotein V platelet [Gene - OMIM - HGNC]
HES1:hes family bHLH transcription factor 1 [Gene - OMIM - HGNC]
IL1RAP:interleukin 1 receptor accessory protein [Gene - OMIM - HGNC]
LSG1:large 60S subunit nuclear export GTPase 1 [Gene - OMIM - HGNC]
LMLN:leishmanolysin like peptidase [Gene - OMIM - HGNC]
LRRC15:leucine rich repeat containing 15 [Gene - OMIM - HGNC]
LRCH3:leucine rich repeats and calponin homology domain containing 3 [Gene - HGNC]
MELTF:melanotransferrin [Gene - OMIM - HGNC]
MIR28:microRNA 28 [Gene - OMIM - HGNC]
MIR570:microRNA 570 [Gene - OMIM - HGNC]
MUC20:mucin 20, cell surface associated [Gene - OMIM - HGNC]
MUC4:mucin 4, cell surface associated [Gene - OMIM - HGNC]
NRROS:negative regulator of reactive oxygen species [Gene - OMIM - HGNC]
NCBP2:nuclear cap binding protein subunit 2 [Gene - OMIM - HGNC]
OSTN:osteocrin [Gene - OMIM - HGNC]
PAK2:p21 (RAC1) activated kinase 2 [Gene - OMIM - HGNC]
PCYT1A:phosphate cytidylyltransferase 1A, choline [Gene - OMIM - HGNC]
PIGX:phosphatidylinositol glycan anchor biosynthesis class X [Gene - OMIM - HGNC]
PIGZ:phosphatidylinositol glycan anchor biosynthesis class Z [Gene - OMIM - HGNC]
PLAAT1:phospholipase A and acyltransferase 1 [Gene - OMIM - HGNC]
P3H2:prolyl 3-hydroxylase 2 [Gene - OMIM - HGNC]
PPP1R2:protein phosphatase 1 regulatory inhibitor subunit 2 [Gene - OMIM - HGNC]
PYDC2:pyrin domain containing 2 [Gene - OMIM - HGNC]
RPL35A:ribosomal protein L35a [Gene - OMIM - HGNC]
RNF168:ring finger protein 168 [Gene - OMIM - HGNC]
RUBCN:rubicon autophagy regulator [Gene - OMIM - HGNC]
SMCO1:single-pass membrane protein with coiled-coil domains 1 [Gene - HGNC]
SLC51A:solute carrier family 51 subunit alpha [Gene - OMIM - HGNC]
TFRC:transferrin receptor [Gene - OMIM - HGNC]
TM4SF19:transmembrane 4 L six family member 19 [Gene - HGNC]
TMEM207:transmembrane protein 207 [Gene - OMIM - HGNC]
TMEM44:transmembrane protein 44 [Gene - HGNC]
TPRG1:tumor protein p63 regulated 1 [Gene - HGNC]
TP63:tumor protein p63 [Gene - OMIM - HGNC]
TNK2:tyrosine kinase non receptor 2 [Gene - OMIM - HGNC]
UTS2B:urotensin 2B [Gene - OMIM - HGNC]
XXYLT1:xyloside xylosyltransferase 1 [Gene - OMIM - HGNC]
ZDHHC19:zinc finger DHHC-type palmitoyltransferase 19 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

3q28-29

Genomic location:

Chr3: 188386566 - 197838262 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3

HGVS:

Observations:

Condition(s)

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

Recent activity

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protein hgh1 [Schizosaccharomyces pombe]
protein hgh1 [Schizosaccharomyces pombe]
gi|19115795|ref|NP_594883.1|

Protein
Ephydatia fluviatilis partial 18S rRNA gene
Ephydatia fluviatilis partial 18S rRNA gene
gi|2268710965|emb|OX176766.1|

Nucleotide
NADH dehydrogenase subunit 2, partial (mitochondrion) [Trachemys scripta elegans...
NADH dehydrogenase subunit 2, partial (mitochondrion) [Trachemys scripta elegans]
gi|2670304440|gb|WVQ60807.1|

Protein
Pseudemys peninsularis voucher HBS108722 NADH dehydrogenase subunit 4 (ND4) gene...
Pseudemys peninsularis voucher HBS108722 NADH dehydrogenase subunit 4 (ND4) gene, partial cds; tRNA-His gene, complete sequence; and tRNA-Ser gene, partial sequence; mitochondrial
gi|482667442|gb|KC688247.1|

Nucleotide
adenosine monophosphate protein, partial [Acropora hyacinthus]
adenosine monophosphate protein, partial [Acropora hyacinthus]
gi|2288960470|gb|UVH36060.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000929918	Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington	criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)	Pathogenic (Jul 12, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000929918

Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington

criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)

Pathogenic
(Jul 12, 2018)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.

Fernández-Jaén A, Castellanos Mdel C, Fernández-Perrone AL, Fernández-Mayoralas DM, de la Vega AG, Calleja-Pérez B, Fernández EC, Albert J, Hombre MC.

Am J Med Genet A. 2014 Aug;164A(8):2043-7. doi: 10.1002/ajmg.a.36559. Epub 2014 May 16.

PubMed [citation]

PMID:: 24838842

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV000929918.1

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

Description

Patient also had 11q23.3qter(120,576,984_134,934,063)x1 consistent with an unbalanced reciprocal translocation

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

Last Updated: Apr 23, 2022

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