Single allele AND Chromosome 4q21 deletion syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 2, 2019
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:: RCV001172266.2

Allele description [Variation Report for Single allele]

Genes:

CDS1:CDP-diacylglycerol synthase 1 [Gene - OMIM - HGNC]
COPS4:COP9 signalosome subunit 4 [Gene - OMIM - HGNC]
NKX6-1:NK6 homeobox 1 [Gene - OMIM - HGNC]
SEC31A:SEC31 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
THAP9:THAP domain containing 9 [Gene - OMIM - HGNC]
ABRAXAS1:abraxas 1, BRCA1 A complex subunit [Gene - OMIM - HGNC]
COQ2:coenzyme Q2, polyprenyltransferase [Gene - OMIM - HGNC]
ENOPH1:enolase-phosphatase 1 [Gene - HGNC]
GPAT3:glycerol-3-phosphate acyltransferase 3 [Gene - OMIM - HGNC]
HELQ:helicase, POLQ like [Gene - OMIM - HGNC]
HPSE:heparanase [Gene - OMIM - HGNC]
HNRNPDL:heterogeneous nuclear ribonucleoprotein D like [Gene - OMIM - HGNC]
HNRNPD:heterogeneous nuclear ribonucleoprotein D [Gene - OMIM - HGNC]
LIN54:lin-54 DREAM MuvB core complex component [Gene - OMIM - HGNC]
MRPS18C:mitochondrial ribosomal protein S18C [Gene - OMIM - HGNC]
PLAC8:placenta associated 8 [Gene - OMIM - HGNC]
SCD5:stearoyl-CoA desaturase 5 [Gene - OMIM - HGNC]
TMEM150C:transmembrane protein 150C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q21.22-21.23

Genomic location:

Chr4: 83196931 - 85540706 (on Assembly GRCh37)

HGVS:

NC_000004.11:g.83196931_85540706del

Condition(s)

Name:: Chromosome 4q21 deletion syndrome
Identifiers:: MONDO: MONDO:0013292; MedGen: C3150756; Orphanet: 238750; OMIM: 613509

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001193436	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	no assertion criteria provided	Pathogenic (Dec 2, 2019)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001193436

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

no assertion criteria provided

Pathogenic
(Dec 2, 2019)

de novo

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001193436.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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