Single allele AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 13, 2021
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:: RCV001391678.1

Allele description [Variation Report for Single allele]

Genes:

BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]
BTBD16:BTB domain containing 16 [Gene - HGNC]
CACUL1:CDK2 associated cullin domain 1 [Gene - OMIM - HGNC]
CUZD1:CUB and zona pellucida like domains 1 [Gene - OMIM - HGNC]
DENND10:DENN domain containing 10 [Gene - HGNC]
EMX2OS:EMX2 opposite strand/antisense RNA [Gene - OMIM - HGNC]
GRK5:G protein-coupled receptor kinase 5 [Gene - OMIM - HGNC]
HTRA1:HtrA serine peptidase 1 [Gene - OMIM - HGNC]
IKZF5:IKAROS family zinc finger 5 [Gene - OMIM - HGNC]
NSMCE4A:NSE4 homolog A, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
RAB11FIP2:RAB11 family interacting protein 2 [Gene - OMIM - HGNC]
SEC23IP:SEC23 interacting protein [Gene - OMIM - HGNC]
TIAL1:TIA1 cytotoxic granule associated RNA binding protein like 1 [Gene - OMIM - HGNC]
WDR11:WD repeat domain 11 [Gene - OMIM - HGNC]
ACADSB:acyl-CoA dehydrogenase short/branched chain [Gene - OMIM - HGNC]
ARMS2:age-related maculopathy susceptibility 2 [Gene - OMIM - HGNC]
ATE1:arginyltransferase 1 [Gene - OMIM - HGNC]
CASC2:cancer susceptibility 2 [Gene - OMIM - HGNC]
C10orf120:chromosome 10 open reading frame 120 [Gene - HGNC]
C10orf88:chromosome 10 open reading frame 88 [Gene - HGNC]
DMBT1:deleted in malignant brain tumors 1 [Gene - OMIM - HGNC]
EMX2:empty spiracles homeobox 2 [Gene - OMIM - HGNC]
EIF3A:eukaryotic translation initiation factor 3 subunit A [Gene - OMIM - HGNC]
FAM204A:family with sequence similarity 204 member A [Gene - HGNC]
FAM24A:family with sequence similarity 24 member A [Gene - HGNC]
FAM24B:family with sequence similarity 24 member B [Gene - HGNC]
FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]
INPP5F:inositol polyphosphate-5-phosphatase F [Gene - OMIM - HGNC]
MCMBP:minichromosome maintenance complex binding protein [Gene - OMIM - HGNC]
NANOS1:nanos C2HC-type zinc finger 1 [Gene - OMIM - HGNC]
PRDX3:peroxiredoxin 3 [Gene - OMIM - HGNC]
PLPP4:phospholipid phosphatase 4 [Gene - HGNC]
PSTK:phosphoseryl-tRNA kinase [Gene - OMIM - HGNC]
PLEKHA1:pleckstrin homology domain containing A1 [Gene - OMIM - HGNC]
PRLHR:prolactin releasing hormone receptor [Gene - OMIM - HGNC]
RGS10:regulator of G protein signaling 10 [Gene - OMIM - HGNC]
SFXN4:sideroflexin 4 [Gene - OMIM - HGNC]
TACC2:transforming acidic coiled-coil containing protein 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q26.11-26.13

Genomic location:

Chr10: 119302758 - 124813305 (on Assembly GRCh37)

HGVS:

NC_000010.10:g.119302758_124813305del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

CLVX3366.b1_L02.ab1 CLV(XYZ) lettuce virosa Lactuca virosa cDNA clone CLVX3366, ...
CLVX3366.b1_L02.ab1 CLV(XYZ) lettuce virosa Lactuca virosa cDNA clone CLVX3366, mRNA sequence
gi|84014228|gnl|dbEST|34755684|gb|D 98.1|

Nucleotide

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
SCV001593302	Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Likely pathogenic (May 13, 2021)	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

SCV001593302

Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Likely pathogenic
(May 13, 2021)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]

PMID:: 31690835
PMCID:: PMC7313390

Details of each submission

From Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, SCV001593302.1

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

Last Updated: Nov 5, 2022

ClinVar

Relating variation to medicine