GRCh37/hg19 19q13.33(chr19:50355646-50552140) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 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:: RCV002052690.3

Allele description [Variation Report for GRCh37/hg19 19q13.33(chr19:50355646-50552140)]

GRCh37/hg19 19q13.33(chr19:50355646-50552140)

Genes:

AKT1S1:AKT1 substrate 1 [Gene - OMIM - HGNC]
PTOV1-AS2:PTOV1 antisense RNA 2 [Gene - HGNC]
PTOV1:PTOV1 extended AT-hook containing adaptor protein [Gene - OMIM - HGNC]
TBC1D17:TBC1 domain family member 17 [Gene - OMIM - HGNC]
VRK3:VRK serine/threonine kinase 3 [Gene - OMIM - HGNC]
ATF5:activating transcription factor 5 [Gene - OMIM - HGNC]
IL4I1:interleukin 4 induced 1 [Gene - OMIM - HGNC]
NUP62:nucleoporin 62 [Gene - OMIM - HGNC]
PNKP:polynucleotide kinase 3'-phosphatase [Gene - OMIM - HGNC]
SIGLEC11:sialic acid binding Ig like lectin 11 [Gene - OMIM - HGNC]
ZNF473:zinc finger protein 473 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

19q13.33

Genomic location:

Chr19: 50355646 - 50552140 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 19q13.33(chr19:50355646-50552140)

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens chromosome 19 clone LLNLR-261D9, complete sequence
Homo sapiens chromosome 19 clone LLNLR-261D9, complete sequence
gi|21747432|gnl|lanlchgs|261D9|gb|A 19.8|

Nucleotide
Strumigenys sp. 845.PYR.1.1 Long wavelength rhodopsin (LR) gene, partial cds
Strumigenys sp. 845.PYR.1.1 Long wavelength rhodopsin (LR) gene, partial cds
gi|723783689|gb|KF978352.1|

Nucleotide
Catellatospora citrea strain:DSM 44097
Catellatospora citrea strain:DSM 44097
Catellatospora citrea DSM 44097 genome sequencing

BioProject
Microbe sample from Streptomyces albireticuli
Microbe sample from Streptomyces albireticuli

biosample
Amycolatopsis DNA recombination/repair protein (recN) gene, partial cds.
Amycolatopsis DNA recombination/repair protein (recN) gene, partial cds.
PopSet: 337733140

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002319799	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (ARUP Cytogenomic Constitutional CNV Assertion Criteria)	Uncertain significance (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002319799

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)

Uncertain significance
(Mar 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002319799.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Aug 15, 2022

ClinVar

Relating variation to medicine

GRCh37/hg19 19q13.33(chr19:50355646-50552140) AND not specified

Allele description [Variation Report for GRCh37/hg19 19q13.33(chr19:50355646-50552140)]

GRCh37/hg19 19q13.33(chr19:50355646-50552140)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002319799.1