GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1 AND See cases

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 16, 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:: RCV000512107.2

Allele description

GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1

Genes:

BCL3:BCL3 transcription coactivator [Gene - OMIM - HGNC]
CEACAM16:CEA cell adhesion molecule 16, tectorial membrane component [Gene - OMIM - HGNC]
CEACAM19:CEA cell adhesion molecule 19 [Gene - OMIM - HGNC]
CEACAM20:CEA cell adhesion molecule 20 [Gene - HGNC]
CLASRP:CLK4 associating serine/arginine rich protein [Gene - OMIM - HGNC]
CLPTM1:CLPTM1 regulator of GABA type A receptor forward trafficking [Gene - OMIM - HGNC]
CBLC:Cbl proto-oncogene C [Gene - OMIM - HGNC]
LYPD5:LY6/PLAUR domain containing 5 [Gene - OMIM - HGNC]
PVR:PVR cell adhesion molecule [Gene - OMIM - HGNC]
RELB:RELB proto-oncogene, NF-kB subunit [Gene - OMIM - HGNC]
APOC1:apolipoprotein C1 [Gene - OMIM - HGNC]
APOC2:apolipoprotein C2 [Gene - OMIM - HGNC]
APOC4:apolipoprotein C4 [Gene - OMIM - HGNC]
APOE:apolipoprotein E [Gene - OMIM - HGNC]
BCAM:basal cell adhesion molecule (Lutheran blood group) [Gene - OMIM - HGNC]
GEMIN7:gem nuclear organelle associated protein 7 [Gene - OMIM - HGNC]
IGSF23:immunoglobulin superfamily member 23 [Gene - HGNC]
NECTIN2:nectin cell adhesion molecule 2 [Gene - OMIM - HGNC]
PPP1R37:protein phosphatase 1 regulatory subunit 37 [Gene - HGNC]
TOMM40:translocase of outer mitochondrial membrane 40 [Gene - OMIM - HGNC]
ZNF112:zinc finger protein 112 [Gene - OMIM - HGNC]
ZNF155:zinc finger protein 155 [Gene - OMIM - HGNC]
ZNF180:zinc finger protein 180 [Gene - OMIM - HGNC]
ZNF221:zinc finger protein 221 [Gene - HGNC]
ZNF222:zinc finger protein 222 [Gene - OMIM - HGNC]
ZNF223:zinc finger protein 223 [Gene - HGNC]
ZNF224:zinc finger protein 224 [Gene - OMIM - HGNC]
ZNF225:zinc finger protein 225 [Gene - HGNC]
ZNF226:zinc finger protein 226 [Gene - HGNC]
ZNF227:zinc finger protein 227 [Gene - HGNC]
ZNF229:zinc finger protein 229 [Gene - HGNC]
ZNF230:zinc finger protein 230 [Gene - HGNC]
ZNF233:zinc finger protein 233 [Gene - HGNC]
ZNF234:zinc finger protein 234 [Gene - OMIM - HGNC]
ZNF235:zinc finger protein 235 [Gene - OMIM - HGNC]
ZNF283:zinc finger protein 283 [Gene - HGNC]
ZNF284:zinc finger protein 284 [Gene - HGNC]
ZNF285:zinc finger protein 285 [Gene - HGNC]
ZNF296:zinc finger protein 296 [Gene - OMIM - HGNC]
ZNF404:zinc finger protein 404 [Gene - HGNC]
ZNF45:zinc finger protein 45 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

19q13.31-13.32

Genomic location:

Chr19: 44300416 - 45639540 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1

HGVS:

NC_000019.9:g.(?_44300416)_(45639540_?)del

Links:

dbVar: nssv13642608; dbVar: nsv2773200

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

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
SCV000585113	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (Feb 16, 2015)	not provided	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

SCV000585113

ISCA site 1

See additional submitters

no assertion criteria provided

Uncertain significance
(Feb 16, 2015)

not provided

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
human	not provided	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, SCV000585113.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine