GRCh37/hg19 2q13-14.3(chr2:113188197-128144700) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002053220.3

Allele description [Variation Report for GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)]

GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)

Genes:

NT5DC4:5'-nucleotidase domain containing 4 [Gene - HGNC]
DDX18:DEAD-box helicase 18 [Gene - OMIM - HGNC]
ERCC3:ERCC excision repair 3, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
GLI2:GLI family zinc finger 2 [Gene - OMIM - HGNC]
RABL2A:RAB, member of RAS oncogene family like 2A [Gene - OMIM - HGNC]
RGPD8:RANBP2 like and GRIP domain containing 8 [Gene - OMIM - HGNC]
RALB:RAS like proto-oncogene B [Gene - OMIM - HGNC]
POLR1B:RNA polymerase I subunit B [Gene - OMIM - HGNC]
RNU4ATAC:RNA, U4atac small nuclear [Gene - OMIM - HGNC]
STEAP3:STEAP3 metalloreductase [Gene - OMIM - HGNC]
ZNG1B:Zn regulated GTPase metalloprotein activator 1B [Gene - OMIM - HGNC]
ACTR3:actin related protein 3 [Gene - OMIM - HGNC]
BIN1:bridging integrator 1 [Gene - OMIM - HGNC]
C2orf76:chromosome 2 open reading frame 76 [Gene - HGNC]
CCDC93:coiled-coil domain containing 93 [Gene - HGNC]
CHCHD5:coiled-coil-helix-coiled-coil-helix domain containing 5 [Gene - OMIM - HGNC]
C1QL2:complement C1q like 2 [Gene - OMIM - HGNC]
CNTNAP5:contactin associated protein family member 5 [Gene - OMIM - HGNC]
CYP27C1:cytochrome P450 family 27 subfamily C member 1 [Gene - HGNC]
CLASP1:cytoplasmic linker associated protein 1 [Gene - OMIM - HGNC]
CKAP2L:cytoskeleton associated protein 2 like [Gene - OMIM - HGNC]
DBI:diazepam binding inhibitor, acyl-CoA binding protein [Gene - OMIM - HGNC]
DPP10:dipeptidyl peptidase like 10 [Gene - OMIM - HGNC]
EN1:engrailed homeobox 1 [Gene - OMIM - HGNC]
EPB41L5:erythrocyte membrane protein band 4.1 like 5 [Gene - OMIM - HGNC]
FOXD4L1:forkhead box D4 like 1 [Gene - OMIM - HGNC]
GYPC:glycophorin C (Gerbich blood group) [Gene - OMIM - HGNC]
INHBB:inhibin subunit beta B [Gene - OMIM - HGNC]
INSIG2:insulin induced gene 2 [Gene - OMIM - HGNC]
IL1A:interleukin 1 alpha [Gene - OMIM - HGNC]
IL1B:interleukin 1 beta [Gene - OMIM - HGNC]
IL1F10:interleukin 1 family member 10 [Gene - OMIM - HGNC]
IL1RN:interleukin 1 receptor antagonist [Gene - OMIM - HGNC]
IL36A:interleukin 36 alpha [Gene - OMIM - HGNC]
IL36B:interleukin 36 beta [Gene - OMIM - HGNC]
IL36G:interleukin 36 gamma [Gene - OMIM - HGNC]
IL36RN:interleukin 36 receptor antagonist [Gene - OMIM - HGNC]
IL37:interleukin 37 [Gene - OMIM - HGNC]
MARCO:macrophage receptor with collagenous structure [Gene - OMIM - HGNC]
MAP3K2:mitogen-activated protein kinase kinase kinase 2 [Gene - OMIM - HGNC]
NIFK:nucleolar protein interacting with the FHA domain of MKI67 [Gene - OMIM - HGNC]
PAX8:paired box 8 [Gene - OMIM - HGNC]
PSD4:pleckstrin and Sec7 domain containing 4 [Gene - OMIM - HGNC]
PTPN4:protein tyrosine phosphatase non-receptor type 4 [Gene - OMIM - HGNC]
SCTR:secretin receptor [Gene - OMIM - HGNC]
SLC20A1:solute carrier family 20 member 1 [Gene - OMIM - HGNC]
SLC35F5:solute carrier family 35 member F5 [Gene - OMIM - HGNC]
TFCP2L1:transcription factor CP2 like 1 [Gene - OMIM - HGNC]
TSN:translin [Gene - OMIM - HGNC]
TMEM177:transmembrane protein 177 [Gene - HGNC]
TMEM185B:transmembrane protein 185B [Gene - HGNC]
TMEM37:transmembrane protein 37 [Gene - OMIM - HGNC]
TTL:tubulin tyrosine ligase [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q13-14.3

Genomic location:

Chr2: 113188197 - 128144700 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)

HGVS:

NC_000002.11:g.(?_113188197)_(128144700_?)del

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002320016	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (ARUP Cytogenomic Constitutional CNV Assertion Criteria)	Pathogenic (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002320016

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)

Pathogenic
(Mar 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002320016.1

#	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	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 15, 2022

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Relating variation to medicine