NC_000019.9:g.(?_39205089)_(40913839_?)dup AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 6, 2022
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:: RCV003122562.3

Allele description

NC_000019.9:g.(?_39205089)_(40913839_?)dup

Genes:

AKT2:AKT serine/threonine kinase 2 [Gene - OMIM - HGNC]
CLC:Charcot-Leyden crystal galectin [Gene - OMIM - HGNC]
EID2:EP300 interacting inhibitor of differentiation 2 [Gene - OMIM - HGNC]
EID2B:EP300 interacting inhibitor of differentiation 2B [Gene - OMIM - HGNC]
FBXO17:F-box protein 17 [Gene - OMIM - HGNC]
FBXO27:F-box protein 27 [Gene - OMIM - HGNC]
FCGBP:Fc gamma binding protein [Gene - OMIM - HGNC]
NCCRP1:NCCRP1, F-box associated domain containing [Gene - OMIM - HGNC]
NFKBIB:NFKB inhibitor beta [Gene - OMIM - HGNC]
PAF1:PAF1 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]
RINL:Ras and Rab interactor like [Gene - HGNC]
SUPT5H:SPT5 homolog, DSIF elongation factor subunit [Gene - OMIM - HGNC]
ZFP36:ZFP36 ring finger protein [Gene - OMIM - HGNC]
ACP7:acid phosphatase 7, tartrate resistant (putative) [Gene - OMIM - HGNC]
ACTN4:actinin alpha 4 [Gene - OMIM - HGNC]
CAPN12:calpain 12 [Gene - OMIM - HGNC]
C19orf47:chromosome 19 open reading frame 47 [Gene - HGNC]
CCNP:cyclin P [Gene - OMIM - HGNC]
DLL3:delta like canonical Notch ligand 3 [Gene - OMIM - HGNC]
DYRK1B:dual specificity tyrosine phosphorylation regulated kinase 1B [Gene - OMIM - HGNC]
ECH1:enoyl-CoA hydratase 1 [Gene - OMIM - HGNC]
FBL:fibrillarin [Gene - OMIM - HGNC]
LGALS13:galectin 13 [Gene - OMIM - HGNC]
LGALS14:galectin 14 [Gene - OMIM - HGNC]
LGALS16:galectin 16 [Gene - HGNC]
LGALS4:galectin 4 [Gene - OMIM - HGNC]
LGALS7:galectin 7 [Gene - OMIM - HGNC]
LGALS7B:galectin 7B [Gene - OMIM - HGNC]
GMFG:glia maturation factor gamma [Gene - OMIM - HGNC]
HNRNPL:heterogeneous nuclear ribonucleoprotein L [Gene - OMIM - HGNC]
HIPK4:homeodomain interacting protein kinase 4 [Gene - OMIM - HGNC]
IFNL1:interferon lambda 1 [Gene - OMIM - HGNC]
IFNL2:interferon lambda 2 [Gene - OMIM - HGNC]
IFNL3:interferon lambda 3 [Gene - OMIM - HGNC]
LRFN1:leucine rich repeat and fibronectin type III domain containing 1 [Gene - OMIM - HGNC]
LEUTX:leucine twenty homeobox [Gene - OMIM - HGNC]
MED29:mediator complex subunit 29 [Gene - OMIM - HGNC]
MRPS12:mitochondrial ribosomal protein S12 [Gene - OMIM - HGNC]
MAP3K10:mitogen-activated protein kinase kinase kinase 10 [Gene - OMIM - HGNC]
PAK4:p21 (RAC1) activated kinase 4 [Gene - OMIM - HGNC]
PRX:periaxin [Gene - OMIM - HGNC]
PLD3:phospholipase D family member 3 [Gene - OMIM - HGNC]
PLEKHG2:pleckstrin homology and RhoGEF domain containing G2 [Gene - OMIM - HGNC]
PSMC4:proteasome 26S subunit, ATPase 4 [Gene - OMIM - HGNC]
RPS16:ribosomal protein S16 [Gene - OMIM - HGNC]
SELENOV:selenoprotein V [Gene - OMIM - HGNC]
SARS2:seryl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
SIRT2:sirtuin 2 [Gene - OMIM - HGNC]
SAMD4B:sterile alpha motif domain containing 4B [Gene - OMIM - HGNC]
SYCN:syncollin [Gene - OMIM - HGNC]
TTC9B:tetratricopeptide repeat domain 9B [Gene - HGNC]
TIMM50:translocase of inner mitochondrial membrane 50 [Gene - OMIM - HGNC]
ZNF546:zinc finger protein 546 [Gene - HGNC]
ZNF780A:zinc finger protein 780A [Gene - HGNC]
ZNF780B:zinc finger protein 780B [Gene - HGNC]

Variant type:

Duplication

Cytogenetic location:

19q13.2

Genomic location:

Chr19: 39205089 - 40913839 (on Assembly GRCh37)

Preferred name:

NC_000019.9:g.(?_39205089)_(40913839_?)dup

HGVS:

NC_000019.9:g.(?_39205089)_(40913839_?)dup

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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PsbN (chloroplast) [Cornus canadensis]
PsbN (chloroplast) [Cornus canadensis]
gi|1747454794|ref|YP_009697801.1|

Protein
Aldolase superfamily protein [Arabidopsis thaliana]
Aldolase superfamily protein [Arabidopsis thaliana]
gi|79325271|ref|NP_001031721.1|

Protein
PREDICTED: Drosophila teissieri uncharacterized LOC122626830 (LOC122626830), mRN...
PREDICTED: Drosophila teissieri uncharacterized LOC122626830 (LOC122626830), mRNA
gi|2098518701|ref|XM_043807247.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003793842	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 6, 2022)	germline	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

SCV003793842

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 6, 2022)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003793842.1

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

Description

A copy number gain of the genomic region encompassing the full coding sequence of the DYRK1B gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with DYRK1B-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 9, 2023

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