GRCh37/hg19 20p13(chr20:61568-2269777)x1 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 2, 2018
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:: RCV001007065.1

Allele description [Variation Report for GRCh37/hg19 20p13(chr20:61568-2269777)x1]

GRCh37/hg19 20p13(chr20:61568-2269777)x1

Genes:

FKBP1A:FKBP prolyl isomerase 1A [Gene - OMIM - HGNC]
NSFL1C:NSFL1 cofactor [Gene - OMIM - HGNC]
RSPO4:R-spondin 4 [Gene - OMIM - HGNC]
RAD21L1:RAD21 cohesin complex component like 1 [Gene - OMIM - HGNC]
RBCK1:RANBP2-type and C3HC4-type zinc finger containing 1 [Gene - OMIM - HGNC]
SOX12:SRY-box transcription factor 12 [Gene - OMIM - HGNC]
TBC1D20:TBC1 domain family member 20 [Gene - OMIM - HGNC]
ANGPT4:angiopoietin 4 [Gene - OMIM - HGNC]
CSNK2A1:casein kinase 2 alpha 1 [Gene - OMIM - HGNC]
C20orf202:chromosome 20 open reading frame 202 [Gene - HGNC]
C20orf96:chromosome 20 open reading frame 96 [Gene - HGNC]
DEFB125:defensin beta 125 [Gene - HGNC]
DEFB126:defensin beta 126 [Gene - OMIM - HGNC]
DEFB127:defensin beta 127 [Gene - HGNC]
DEFB128:defensin beta 128 [Gene - HGNC]
DEFB129:defensin beta 129 [Gene - HGNC]
DEFB132:defensin beta 132 [Gene - HGNC]
FAM110A:family with sequence similarity 110 member A [Gene - OMIM - HGNC]
NRSN2:neurensin 2 [Gene - OMIM - HGNC]
PDYN:prodynorphin [Gene - OMIM - HGNC]
PSMF1:proteasome inhibitor subunit 1 [Gene - OMIM - HGNC]
SCRT2:scratch family transcriptional repressor 2 [Gene - HGNC]
STK35:serine/threonine kinase 35 [Gene - OMIM - HGNC]
SIRPA:signal regulatory protein alpha [Gene - OMIM - HGNC]
SIRPB1:signal regulatory protein beta 1 [Gene - OMIM - HGNC]
SIRPB2:signal regulatory protein beta 2 [Gene - HGNC]
SIRPD:signal regulatory protein delta [Gene - HGNC]
SIRPG:signal regulatory protein gamma [Gene - OMIM - HGNC]
SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]
SRXN1:sulfiredoxin 1 [Gene - OMIM - HGNC]
SDCBP2:syndecan binding protein 2 [Gene - OMIM - HGNC]
SNPH:syntaphilin [Gene - OMIM - HGNC]
TCF15:transcription factor 15 [Gene - OMIM - HGNC]
TMEM74B:transmembrane protein 74B [Gene - HGNC]
TRIB3:tribbles pseudokinase 3 [Gene - OMIM - HGNC]
ZCCHC3:zinc finger CCHC-type containing 3 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

20p13

Genomic location:

Chr20: 61568 - 2269777 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 20p13(chr20:61568-2269777)x1

HGVS:

NC_000020.10:g.(?_61568)_(2269777_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001166632	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Pathogenic (Nov 2, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001166632

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Pathogenic
(Nov 2, 2018)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001166632.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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