GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 20, 2016
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:: RCV000240485.2

Allele description [Variation Report for GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1]

GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1

Genes:

NT5DC4:5'-nucleotidase domain containing 4 [Gene - HGNC]
BCL2L11:BCL2 like 11 [Gene - OMIM - HGNC]
BUB1:BUB1 mitotic checkpoint serine/threonine kinase [Gene - OMIM - HGNC]
CBWD2:COBW domain containing 2 [Gene - OMIM - HGNC]
DDX18:DEAD-box helicase 18 [Gene - OMIM - HGNC]
GLI2:GLI family zinc finger 2 [Gene - OMIM - HGNC]
LIMS3:LIM zinc finger domain containing 3 [Gene - HGNC]
LIMS4:LIM zinc finger domain containing 4 [Gene - HGNC]
MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
RABL2A:RAB, member of RAS oncogene family like 2A [Gene - OMIM - HGNC]
RGPD5:RANBP2 like and GRIP domain containing 5 [Gene - OMIM - HGNC]
RGPD6:RANBP2 like and GRIP domain containing 6 [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 (U12-dependent splicing) [Gene - OMIM - HGNC]
STEAP3:STEAP3 metalloreductase [Gene - OMIM - HGNC]
ACTR3:actin related protein 3 [Gene - OMIM - HGNC]
ACOXL:acyl-CoA oxidase like [Gene - HGNC]
ANAPC1:anaphase promoting complex subunit 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]
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]
FBLN7:fibulin 7 [Gene - OMIM - HGNC]
FOXD4L1:forkhead box D4 like 1 [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]
MALL:mal, T cell differentiation protein like [Gene - OMIM - HGNC]
NPHP1:nephrocystin 1 [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]
SEPTIN10:septin 10 [Gene - OMIM - HGNC]
SLC20A1:solute carrier family 20 member 1 [Gene - OMIM - HGNC]
SLC35F5:solute carrier family 35 member F5 [Gene - HGNC]
SOWAHC:sosondowah ankyrin repeat domain family member C [Gene - 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]
TMEM87B:transmembrane protein 87B [Gene - OMIM - HGNC]
TTL:tubulin tyrosine ligase [Gene - OMIM - HGNC]
ZC3H6:zinc finger CCCH-type containing 6 [Gene - HGNC]
ZC3H8:zinc finger CCCH-type containing 8 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q12.3-14.3

Genomic location:

Chr2: 109798247 - 125658380 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1

HGVS:

NC_000002.11:g.(?_109798247)_(125658380_?)del

Condition(s)

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

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oz35b03.x1 Soares_NhHMPu_S1 Homo sapiens cDNA clone IMAGE:1677293 3', mRNA seque...
oz35b03.x1 Soares_NhHMPu_S1 Homo sapiens cDNA clone IMAGE:1677293 3', mRNA sequence
gi|3416915|gnl|dbEST|1838503|gb|AI0 .1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000298314	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jan 20, 2016)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298314

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jan 20, 2016)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000298314.3

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine