GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2018
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:: RCV000767621.1

Allele description [Variation Report for GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)]

GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)

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]
DNM3OS:DNM3 opposite strand/antisense RNA [Gene - HGNC]
FAM20B:FAM20B glycosaminoglycan xylosylkinase [Gene - OMIM - HGNC]
FIRRM:FIGNL1 interacting regulator of recombination and mitosis [Gene - HGNC]
FASLG:Fas ligand [Gene - OMIM - HGNC]
GPR52:G protein-coupled receptor 52 [Gene - OMIM - HGNC]
KIAA0040:KIAA0040 [Gene - OMIM - HGNC]
LHX4:LIM homeobox 4 [Gene - OMIM - HGNC]
NTMT2:N-terminal Xaa-Pro-Lys N-methyltransferase 2 [Gene - 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]
SCYL3:SCY1 like pseudokinase 3 [Gene - OMIM - HGNC]
SEC16B:SEC16 homolog B, endoplasmic reticulum export factor [Gene - OMIM - HGNC]
SUCO:SUN domain containing ossification factor [Gene - OMIM - HGNC]
TNFSF18:TNF superfamily member 18 [Gene - OMIM - HGNC]
TNFSF4:TNF superfamily member 4 [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]
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]
CACYBP:calcyclin binding protein [Gene - OMIM - HGNC]
CENPL:centromere protein L [Gene - OMIM - HGNC]
CEP350:centrosomal protein 350 [Gene - OMIM - HGNC]
C1orf105:chromosome 1 open reading frame 105 [Gene - HGNC]
F5:coagulation factor V [Gene - OMIM - HGNC]
DNM3:dynamin 3 [Gene - OMIM - HGNC]
FAM163A:family with sequence similarity 163 member A [Gene - OMIM - HGNC]
FMO1:flavin containing dimethylaniline monoxygenase 1 [Gene - OMIM - HGNC]
FMO2:flavin containing dimethylaniline monoxygenase 2 [Gene - OMIM - HGNC]
FMO3:flavin containing dimethylaniline monoxygenase 3 [Gene - OMIM - HGNC]
FMO4:flavin containing dimethylaniline monoxygenase 4 [Gene - OMIM - HGNC]
GORAB:golgin, RAB6 interacting [Gene - OMIM - HGNC]
GAS5:growth arrest specific 5 [Gene - OMIM - HGNC]
KLHL20:kelch like family member 20 [Gene - OMIM - HGNC]
KIFAP3:kinesin associated protein 3 [Gene - OMIM - HGNC]
MROH9:maestro heat like repeat family member 9 [Gene - HGNC]
METTL13:methyltransferase 13, eEF1A N-terminus and K55 [Gene - OMIM - HGNC]
METTL18:methyltransferase 18, RPL3 N3(tau)-histidine [Gene - OMIM - HGNC]
MIR199A2:microRNA 199a-2 [Gene - OMIM - HGNC]
MIR214:microRNA 214 [Gene - OMIM - HGNC]
MIR3120:microRNA 3120 [Gene - OMIM - HGNC]
MRPS14:mitochondrial ribosomal protein S14 [Gene - OMIM - HGNC]
MYOC:myocilin [Gene - OMIM - HGNC]
PRRX1:paired related homeobox 1 [Gene - OMIM - HGNC]
PAPPA2:pappalysin 2 [Gene - OMIM - HGNC]
PRDX6:peroxiredoxin 6 [Gene - OMIM - HGNC]
PIGC:phosphatidylinositol glycan anchor biosynthesis class C [Gene - OMIM - HGNC]
PRRC2C:proline rich coiled-coil 2C [Gene - OMIM - HGNC]
QSOX1:quiescin sulfhydryl oxidase 1 [Gene - OMIM - HGNC]
RC3H1:ring finger and CCCH-type domains 1 [Gene - OMIM - HGNC]
SELE:selectin E [Gene - OMIM - HGNC]
SELL:selectin L [Gene - OMIM - HGNC]
SELP:selectin P [Gene - OMIM - HGNC]
SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]
SLC19A2:solute carrier family 19 member 2 [Gene - OMIM - HGNC]
SLC9C2:solute carrier family 9 member C2 (putative) [Gene - OMIM - HGNC]
SOAT1:sterol O-acyltransferase 1 [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]
TDRD5:tudor domain containing 5 [Gene - OMIM - HGNC]
VAMP4:vesicle associated membrane protein 4 [Gene - OMIM - HGNC]
ZBTB37:zinc finger and BTB domain containing 37 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

1q24.2-25.3

Genomic location:

Chr1: 169423492 - 180367623 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Homo sapiens ring finger protein 26 (RNF26), mRNA
Homo sapiens ring finger protein 26 (RNF26), mRNA
gi|1653962503|ref|NM_032015.5|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000898243	Baylor Genetics	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Pathogenic (Nov 1, 2018)	germline	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

SCV000898243

Baylor Genetics

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Pathogenic
(Nov 1, 2018)

germline

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	germline	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]

PMID:: 21681106

Details of each submission

From Baylor Genetics, SCV000898243.1

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

Description

Duplications involving this region have been previously reported in patients with microcephaly and proportionate growth deficiency, cognitive disability, dysmorphisms (PMID 21548129, 18925675)

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

Last Updated: Oct 14, 2023

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