GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 22, 2015
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:: RCV000511150.3

Allele description [Variation Report for GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1]

GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1

Genes:

DDX18:DEAD-box helicase 18 [Gene - OMIM - HGNC]
GLI2:GLI family zinc finger 2 [Gene - OMIM - HGNC]
RABL2A:RAB, member of RAS oncogene family like 2A [Gene - OMIM - HGNC]
RALB:RAS like proto-oncogene 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]
C2orf76:chromosome 2 open reading frame 76 [Gene - HGNC]
CCDC93:coiled-coil domain containing 93 [Gene - OMIM - HGNC]
C1QL2:complement C1q like 2 [Gene - OMIM - HGNC]
CLASP1:cytoplasmic linker associated protein 1 [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]
INHBB:inhibin subunit beta B [Gene - OMIM - HGNC]
INSIG2:insulin induced gene 2 [Gene - OMIM - HGNC]
MARCO:macrophage receptor with collagenous structure [Gene - OMIM - HGNC]
NIFK:nucleolar protein interacting with the FHA domain of MKI67 [Gene - OMIM - HGNC]
PTPN4:protein tyrosine phosphatase non-receptor type 4 [Gene - OMIM - HGNC]
SCTR:secretin receptor [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 - OMIM - HGNC]
TMEM185B:transmembrane protein 185B [Gene - HGNC]
TMEM37:transmembrane protein 37 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q13-14.3

Genomic location:

Chr2: 114056441 - 123673800 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1

HGVS:

NC_000002.11:g.(?_114056441)_(123673800_?)del

Links:

dbVar: nssv13638628; dbVar: nsv2771832

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

GyrI-like domain-containing protein [Maridesulfovibrio sp.]
GyrI-like domain-containing protein [Maridesulfovibrio sp.]
gi|2633900019|ref|WP_321402896.1|

Protein
NAD(+)/NADH kinase [Maridesulfovibrio sp.]
NAD(+)/NADH kinase [Maridesulfovibrio sp.]
gi|2633904700|ref|WP_321404904.1|

Protein
ZDHHC11B zinc finger DHHC-type containing 11B [Homo sapiens]
ZDHHC11B zinc finger DHHC-type containing 11B [Homo sapiens]
Gene ID:653082

Gene
653082[uid] AND (alive[prop]) (1)
Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000584880	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Jun 22, 2015)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000584880

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Jun 22, 2015)

de novo

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 1, SCV000584880.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine