GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 AND See cases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 14, 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:: RCV000512520.3

Allele description [Variation Report for GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3]

GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3

Genes:

ABL2:ABL proto-oncogene 2, non-receptor tyrosine kinase [Gene - OMIM - HGNC]
BRINP2:BMP/retinoic acid inducible neural specific 2 [Gene - OMIM - HGNC]
COP1:COP1 E3 ubiquitin ligase [Gene - OMIM - HGNC]
DHX9:DExH-box helicase 9 [Gene - OMIM - HGNC]
EDEM3:ER degradation enhancing alpha-mannosidase like protein 3 [Gene - OMIM - HGNC]
FAM20B:FAM20B glycosaminoglycan xylosylkinase [Gene - OMIM - HGNC]
GPR52:G protein-coupled receptor 52 [Gene - OMIM - HGNC]
KIAA0040:KIAA0040 [Gene - OMIM - HGNC]
KIAA1614:KIAA1614 [Gene - HGNC]
LHX4:LIM homeobox 4 [Gene - OMIM - HGNC]
NPL:N-acetylneuraminate pyruvate lyase [Gene - OMIM - HGNC]
NPHS2:NPHS2 stomatin family member, podocin [Gene - OMIM - HGNC]
RABGAP1L:RAB GTPase activating protein 1 like [Gene - OMIM - HGNC]
RASAL2:RAS protein activator like 2 [Gene - OMIM - HGNC]
RALGPS2:Ral GEF with PH domain and SH3 binding motif 2 [Gene - OMIM - HGNC]
SEC16B:SEC16 homolog B, endoplasmic reticulum export factor [Gene - OMIM - HGNC]
SHCBP1L:SHC binding and spindle associated 1 like [Gene - OMIM - HGNC]
SMG7:SMG7 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
SWT1:SWT1 RNA endoribonuclease homolog [Gene - OMIM - HGNC]
TNFSF4:TNF superfamily member 4 [Gene - OMIM - HGNC]
ARPC5:actin related protein 2/3 complex subunit 5 [Gene - OMIM - HGNC]
ACBD6:acyl-CoA binding domain containing 6 [Gene - OMIM - HGNC]
ANGPTL1:angiopoietin like 1 [Gene - OMIM - HGNC]
ANKRD45:ankyrin repeat domain 45 [Gene - OMIM - HGNC]
APOBEC4:apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 [Gene - OMIM - HGNC]
DARS2:aspartyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
ASTN1:astrotactin 1 [Gene - OMIM - HGNC]
AXDND1:axonemal dynein light chain domain containing 1 [Gene - HGNC]
CACNA1E:calcium voltage-gated channel subunit alpha1 E [Gene - OMIM - HGNC]
CACYBP:calcyclin binding protein [Gene - OMIM - HGNC]
CENPL:centromere protein L [Gene - OMIM - HGNC]
CEP350:centrosomal protein 350 [Gene - OMIM - HGNC]
C1orf21:chromosome 1 open reading frame 21 [Gene - HGNC]
COLGALT2:collagen beta(1-O)galactosyltransferase 2 [Gene - OMIM - HGNC]
FAM163A:family with sequence similarity 163 member A [Gene - OMIM - HGNC]
GLUL:glutamate-ammonia ligase [Gene - OMIM - HGNC]
GAS5:growth arrest specific 5 [Gene - OMIM - HGNC]
IER5:immediate early response 5 [Gene - OMIM - HGNC]
KLHL20:kelch like family member 20 [Gene - OMIM - HGNC]
LAMC1:laminin subunit gamma 1 [Gene - OMIM - HGNC]
LAMC2:laminin subunit gamma 2 [Gene - OMIM - HGNC]
MR1:major histocompatibility complex, class I-related [Gene - OMIM - HGNC]
MRPS14:mitochondrial ribosomal protein S14 [Gene - OMIM - HGNC]
NCF2:neutrophil cytosolic factor 2 [Gene - OMIM - HGNC]
NIBAN1:niban apoptosis regulator 1 [Gene - OMIM - HGNC]
NMNAT2:nicotinamide nucleotide adenylyltransferase 2 [Gene - OMIM - HGNC]
PAPPA2:pappalysin 2 [Gene - OMIM - HGNC]
PRDX6:peroxiredoxin 6 [Gene - OMIM - HGNC]
QSOX1:quiescin sulfhydryl oxidase 1 [Gene - OMIM - HGNC]
RGL1:ral guanine nucleotide dissociation stimulator like 1 [Gene - OMIM - HGNC]
RGS16:regulator of G protein signaling 16 [Gene - OMIM - HGNC]
RGS8:regulator of G protein signaling 8 [Gene - OMIM - HGNC]
RGSL1:regulator of G protein signaling like 1 [Gene - OMIM - HGNC]
RNASEL:ribonuclease L [Gene - OMIM - HGNC]
RC3H1:ring finger and CCCH-type domains 1 [Gene - OMIM - HGNC]
RNF2:ring finger protein 2 [Gene - OMIM - HGNC]
SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]
SLC9C2:solute carrier family 9 member C2 (putative) [Gene - OMIM - HGNC]
SOAT1:sterol O-acyltransferase 1 [Gene - OMIM - HGNC]
STX6:syntaxin 6 [Gene - OMIM - HGNC]
TRMT1L:tRNA methyltransferase 1 like [Gene - OMIM - HGNC]
TSEN15:tRNA splicing endonuclease subunit 15 [Gene - OMIM - HGNC]
TNN:tenascin N [Gene - OMIM - HGNC]
TNR:tenascin R [Gene - OMIM - HGNC]
TEX35:testis expressed 35 [Gene - HGNC]
TOR1AIP1:torsin 1A interacting protein 1 [Gene - OMIM - HGNC]
TOR1AIP2:torsin 1A interacting protein 2 [Gene - OMIM - HGNC]
TOR3A:torsin family 3 member A [Gene - OMIM - HGNC]
TEDDM1:transmembrane epididymal protein 1 [Gene - OMIM - HGNC]
TDRD5:tudor domain containing 5 [Gene - OMIM - HGNC]
XPR1:xenotropic and polytropic retrovirus receptor 1 [Gene - OMIM - HGNC]
ZBTB37:zinc finger and BTB domain containing 37 [Gene - HGNC]
ZNF648:zinc finger protein 648 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

1q25.1-25.3

Genomic location:

Chr1: 173138799 - 185129406 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3

HGVS:

Links:

dbVar: nssv13641147; dbVar: nsv2778317

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

MAG TPA: lysylphosphatidylglycerol synthase transmembrane domain-containing prot...
MAG TPA: lysylphosphatidylglycerol synthase transmembrane domain-containing protein [Patescibacteria group bacterium]
tpg|HLD50847.1||gnl|WGS:DATDUJ|VJB1 90

Protein

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
SCV000586035	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely pathogenic (Jul 14, 2015)	unknown	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

SCV000586035

ISCA site 1

See additional submitters

no assertion criteria provided

Likely pathogenic
(Jul 14, 2015)

unknown

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	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, SCV000586035.1

#	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	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine