GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1 AND See cases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 7, 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:: RCV003158005.1

Allele description [Variation Report for GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1]

GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1

Genes:

ADAM33:ADAM metallopeptidase domain 33 [Gene - OMIM - HGNC]
CDS2:CDP-diacylglycerol synthase 2 [Gene - OMIM - HGNC]
DDRGK1:DDRGK domain containing 1 [Gene - OMIM - HGNC]
FASTKD5:FAST kinase domains 5 [Gene - OMIM - HGNC]
GFRA4:GDNF family receptor alpha 4 [Gene - OMIM - HGNC]
PCNA-AS1:PCNA antisense RNA 1 [Gene - HGNC]
RASSF2:Ras association domain family member 2 [Gene - OMIM - HGNC]
UBOX5:U-box domain containing 5 [Gene - OMIM - HGNC]
AP5S1:adaptor related protein complex 5 subunit sigma 1 [Gene - OMIM - HGNC]
ADISSP:adipose secreted signaling protein [Gene - HGNC]
ADRA1D:adrenoceptor alpha 1D [Gene - OMIM - HGNC]
AVP:arginine vasopressin [Gene - OMIM - HGNC]
ATRN:attractin [Gene - OMIM - HGNC]
CDC25B:cell division cycle 25B [Gene - OMIM - HGNC]
CENPB:centromere protein B [Gene - OMIM - HGNC]
DNAAF9:dynein axonemal assembly factor 9 [Gene - OMIM - HGNC]
GPCPD1:glycerophosphocholine phosphodiesterase 1 [Gene - OMIM - HGNC]
GNRH2:gonadotropin releasing hormone 2 [Gene - OMIM - HGNC]
HSPA12B:heat shock protein family A (Hsp70) member 12B [Gene - OMIM - HGNC]
ITPA:inosine triphosphatase [Gene - OMIM - HGNC]
LZTS3:leucine zipper tumor suppressor family member 3 [Gene - OMIM - HGNC]
MIR103A2:microRNA 103a-2 [Gene - OMIM - HGNC]
MAVS:mitochondrial antiviral signaling protein [Gene - OMIM - HGNC]
MRPS26:mitochondrial ribosomal protein S26 [Gene - OMIM - HGNC]
OXT:oxytocin/neurophysin I prepropeptide [Gene - OMIM - HGNC]
PANK2:pantothenate kinase 2 [Gene - OMIM - HGNC]
PRND:prion like protein doppel [Gene - OMIM - HGNC]
PRNP:prion protein [Gene - OMIM - HGNC]
PROKR2:prokineticin receptor 2 [Gene - OMIM - HGNC]
PCNA:proliferating cell nuclear antigen [Gene - OMIM - HGNC]
PTPRA:protein tyrosine phosphatase receptor type A [Gene - OMIM - HGNC]
RNF24:ring finger protein 24 [Gene - OMIM - HGNC]
SIGLEC1:sialic acid binding Ig like lectin 1 [Gene - OMIM - HGNC]
SLC23A2:solute carrier family 23 member 2 [Gene - OMIM - HGNC]
SLC4A11:solute carrier family 4 member 11 [Gene - OMIM - HGNC]
SPEF1:sperm flagellar 1 [Gene - OMIM - HGNC]
SMOX:spermine oxidase [Gene - OMIM - HGNC]
TMEM230:transmembrane protein 230 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

20p13-12.3

Genomic location:

Chr20: 3005123 - 5547871 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1

HGVS:

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003845358	Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ	no assertion criteria provided	Likely pathogenic (Jul 7, 2022)	de novo	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

SCV003845358

Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ

no assertion criteria provided

Likely pathogenic
(Jul 7, 2022)

de novo

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	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities-First case report.

Onur P, Shaver M, Iqbal MA.

Clin Case Rep. 2021 May;9(5):e04082. doi: 10.1002/ccr3.4082.

PubMed [citation]

PMID:: 34084500
PMCID:: PMC8142463

Details of each submission

From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV003845358.1

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

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

Last Updated: Apr 9, 2023

ClinVar

Relating variation to medicine