GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516) AND microdeletion 4p16.3p16.1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 25, 2020
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:: RCV001255691.2

Allele description [Variation Report for GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)]

GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)

Genes:

EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]
EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]
GRK4:G protein-coupled receptor kinase 4 [Gene - OMIM - HGNC]
HGFAC:HGF activator [Gene - OMIM - HGNC]
KIAA0232:KIAA0232 [Gene - OMIM - HGNC]
LRPAP1:LDL receptor related protein associated protein 1 [Gene - OMIM - HGNC]
LYAR:Ly1 antibody reactive [Gene - OMIM - HGNC]
MRFAP1L1:Morf4 family associated protein 1 like 1 [Gene - HGNC]
MRFAP1:Morf4 family associated protein 1 [Gene - OMIM - HGNC]
MSANTD1:Myb/SANT DNA binding domain containing 1 [Gene - HGNC]
NOP14:NOP14 nucleolar protein [Gene - OMIM - HGNC]
S100P:S100 calcium binding protein P [Gene - OMIM - HGNC]
ADD1:adducin 1 [Gene - OMIM - HGNC]
ADRA2C:adrenoceptor alpha 2C [Gene - OMIM - HGNC]
BLOC1S4:biogenesis of lysosomal organelles complex 1 subunit 4 [Gene - OMIM - HGNC]
C4orf50:chromosome 4 open reading frame 50 [Gene - HGNC]
CRMP1:collapsin response mediator protein 1 [Gene - OMIM - HGNC]
CYTL1:cytokine like 1 [Gene - OMIM - HGNC]
DOK7:docking protein 7 [Gene - OMIM - HGNC]
HTT:huntingtin [Gene - OMIM - HGNC]
JAKMIP1:janus kinase and microtubule interacting protein 1 [Gene - OMIM - HGNC]
LINC01587:long intergenic non-protein coding RNA 1587 [Gene - HGNC]
MFSD10:major facilitator superfamily domain containing 10 [Gene - OMIM - HGNC]
MAN2B2:mannosidase alpha class 2B member 2 [Gene - OMIM - HGNC]
MSX1:msh homeobox 1 [Gene - OMIM - HGNC]
NSG1:neuronal vesicle trafficking associated 1 [Gene - OMIM - HGNC]
OTOP1:otopetrin 1 [Gene - OMIM - HGNC]
PPP2R2C:protein phosphatase 2 regulatory subunit Bgamma [Gene - OMIM - HGNC]
RGS12:regulator of G protein signaling 12 [Gene - OMIM - HGNC]
STK32B:serine/threonine kinase 32B [Gene - HGNC]
STX18:syntaxin 18 [Gene - OMIM - HGNC]
TMEM128:transmembrane protein 128 [Gene - HGNC]
WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]
ZBTB49:zinc finger and BTB domain containing 49 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

4p16.3-16.1

Genomic location:

Chr4: 2909440 - 6871516 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)

HGVS:

NC_000004.11:g.(?_2909440)_(6871516_?)del

Observations:

Condition(s)

Name:: microdeletion 4p16.3p16.1
Identifiers:

Recent activity

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Swr1 complex histone chaperone module subunit Vps71 [Schizosaccharomyces pombe]
Swr1 complex histone chaperone module subunit Vps71 [Schizosaccharomyces pombe]
gi|19112625|ref|NP_595833.1|

Protein
Mus musculus chromosome 8, clone RP23-99B10, complete sequence
Mus musculus chromosome 8, clone RP23-99B10, complete sequence
gi|79759003|gnl|WIBR|L33746|gb|AC16 7|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001371694	Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ	no assertion criteria provided	Likely pathogenic (Jun 25, 2020)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001371694

Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ

no assertion criteria provided

Likely pathogenic
(Jun 25, 2020)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV001371694.1

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

Last Updated: Apr 1, 2023

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