GRCh37/hg19 4q35.1(chr4:186290688-186799239)x3 AND See cases

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Germline classification:: Likely benign (1 submission)
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:: RCV000446906.1

Allele description

GRCh37/hg19 4q35.1(chr4:186290688-186799239)x3

Genes:

LRP2BP:LRP2 binding protein [Gene - OMIM - HGNC]
PDLIM3:PDZ and LIM domain 3 [Gene - OMIM - HGNC]
UFSP2:UFM1 specific peptidase 2 [Gene - OMIM - HGNC]
ANKRD37:ankyrin repeat domain 37 [Gene - OMIM - HGNC]
C4orf47:chromosome 4 open reading frame 47 [Gene - HGNC]
CCDC110:coiled-coil domain containing 110 [Gene - OMIM - HGNC]
SORBS2:sorbin and SH3 domain containing 2 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

4q35.1

Genomic location:

Chr4: 186290688 - 186799239 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 4q35.1(chr4:186290688-186799239)x3

HGVS:

Links:

dbVar: nssv13639813; dbVar: nsv2768366

Observations:

Condition(s)

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

Recent activity

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scaffolding protein [Streptococcus phage 31B4]
scaffolding protein [Streptococcus phage 31B4]
gi|1251994285|gb|ATI19676.1|

Protein
protochlorophyllide reductase iron-sulfur ATP-binding protein [Jannaschia sp. CC...
protochlorophyllide reductase iron-sulfur ATP-binding protein [Jannaschia sp. CCS1]
gi|88862198|gnl|jgi|Jann_0158|gb|AB 5.1|

Protein
DAB2-interacting protein, partial [Mus musculus]
DAB2-interacting protein, partial [Mus musculus]
gi|33622389|gb|AAP31233.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000501242	ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories	no assertion criteria provided	Likely benign	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000501242

ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories

no assertion criteria provided

Likely benign

not provided

clinical testing

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000501242.1

#	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Feb 20, 2022

ClinVar

Relating variation to medicine

GRCh37/hg19 4q35.1(chr4:186290688-186799239)x3 AND See cases

Allele description

GRCh37/hg19 4q35.1(chr4:186290688-186799239)x3

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, SCV000501242.1