GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1 AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 27, 2020
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:: RCV001801230.1

Allele description [Variation Report for GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1]

GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1

Genes:

BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]
CACUL1:CDK2 associated cullin domain 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]
PDZD8:PDZ domain containing 8 [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]
CASC2:cancer susceptibility 2 [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]
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]
KCNK18:potassium two pore domain channel subfamily K member 18 [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]
SLC18A2:solute carrier family 18 member A2 [Gene - OMIM - HGNC]
VAX1:ventral anterior homeobox 1 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

10q25.3-26.12

Genomic location:

Chr10: 118891670 - 122349064 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1

HGVS:

NC_000010.10:g.(?_118891670)_(122349064_?)del

Condition(s)

Name:: Astigmatism
Identifiers:: MONDO: MONDO:0011284; MedGen: C0004106; OMIM: 603047; Human Phenotype Ontology: HP:0000483

Name:: Congenital ocular coloboma
Synonyms:: COLOBOMA OF IRIS, CHOROID, AND RETINA; COLOBOMA, UVEORETINAL; Coloboma of eye; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0001476; MedGen: C0009363; Orphanet: 194; Human Phenotype Ontology: HP:0000589

Name:: Patent foramen ovale
Identifiers:: MONDO: MONDO:0020439; MedGen: C0016522; Human Phenotype Ontology: HP:0001655

Name:: Premature birth
Identifiers:: MedGen: C0151526; Human Phenotype Ontology: HP:0001622

Name:: Abnormality of the face
Identifiers:: MedGen: C4025871; Human Phenotype Ontology: HP:0000271

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002047442	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Uncertain significance (Nov 27, 2020)	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

SCV002047442

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Uncertain significance
(Nov 27, 2020)

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV002047442.1

#	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: Jul 16, 2023

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