GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1 AND not specified

Germline classification:: Uncertain significance (1 submission)
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:: RCV003986118.1

Allele description [Variation Report for GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1]

GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1

Genes:

ATCAY:ATCAY kinesin light chain interacting caytaxin [Gene - OMIM - HGNC]
EBI3:Epstein-Barr virus induced 3 [Gene - OMIM - HGNC]
MPND:MPN domain containing [Gene - HGNC]
SH3GL1:SH3 domain containing GRB2 like 1, endophilin A2 [Gene - OMIM - HGNC]
SHD:Src homology 2 domain containing transforming protein D [Gene - OMIM - HGNC]
TICAM1:TIR domain containing adaptor molecule 1 [Gene - OMIM - HGNC]
TNFAIP8L1:TNF alpha induced protein 8 like 1 [Gene - OMIM - HGNC]
UBXN6:UBX domain protein 6 [Gene - OMIM - HGNC]
YJU2:YJU2 splicing factor homolog [Gene - HGNC]
ANKRD24:ankyrin repeat domain 24 [Gene - OMIM - HGNC]
CREB3L3:cAMP responsive element binding protein 3 like 3 [Gene - OMIM - HGNC]
CHAF1A:chromatin assembly factor 1 subunit A [Gene - OMIM - HGNC]
DAPK3:death associated protein kinase 3 [Gene - OMIM - HGNC]
DPP9:dipeptidyl peptidase 9 [Gene - OMIM - HGNC]
EEF2:eukaryotic translation elongation factor 2 [Gene - OMIM - HGNC]
FEM1A:fem-1 homolog A [Gene - OMIM - HGNC]
FSD1:fibronectin type III and SPRY domain containing 1 [Gene - OMIM - HGNC]
LRG1:leucine rich alpha-2-glycoprotein 1 [Gene - OMIM - HGNC]
MATK:megakaryocyte-associated tyrosine kinase [Gene - OMIM - HGNC]
MAP2K2:mitogen-activated protein kinase kinase 2 [Gene - OMIM - HGNC]
MYDGF:myeloid derived growth factor [Gene - OMIM - HGNC]
NMRK2:nicotinamide riboside kinase 2 [Gene - OMIM - HGNC]
PLIN3:perilipin 3 [Gene - OMIM - HGNC]
PLIN4:perilipin 4 [Gene - OMIM - HGNC]
PLIN5:perilipin 5 [Gene - OMIM - HGNC]
PIAS4:protein inhibitor of activated STAT 4 [Gene - OMIM - HGNC]
SEMA6B:semaphorin 6B [Gene - OMIM - HGNC]
STAP2:signal transducing adaptor family member 2 [Gene - OMIM - HGNC]
SIRT6:sirtuin 6 [Gene - OMIM - HGNC]
TMIGD2:transmembrane and immunoglobulin domain containing 2 [Gene - OMIM - HGNC]
ZFR2:zinc finger RNA binding protein 2 [Gene - OMIM - HGNC]
ZBTB7A:zinc finger and BTB domain containing 7A [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

19p13.3

Genomic location:

Chr19: 3788725 - 4881494 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1

HGVS:

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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gi|354783810|gb|JN948311.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004802247	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (Constitutional Copy Number Variant Assertion Criteria)	Uncertain significance	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004802247

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(Constitutional Copy Number Variant Assertion Criteria)

Uncertain significance

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, SCV004802247.1

#	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: Mar 30, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1 AND not specified

Allele description [Variation Report for GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1]

GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1

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, SCV004802247.1