46;XX;t(2;10)(q22;22.3)dn AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 20, 2016
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:: RCV000258771.1

Allele description [Variation Report for 46;XX;t(2;10)(q22;22.3)dn]

46;XX;t(2;10)(q22;22.3)dn

Variant type:: Translocation
Cytogenetic location:: 10
Preferred name:: 46;XX;t(2;10)(q22;22.3)dn

Condition(s)

Name:: Obesity
Synonyms:: Obesity disorder
Identifiers:: MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Name:: Short stature
Identifiers:: MedGen: C0349588; Human Phenotype Ontology: HP:0004322

Name:: Genu valgum
Identifiers:: MedGen: C0576093; Human Phenotype Ontology: HP:0002857

Name:: Deeply set eye
Synonyms:: Enophthalmos
Identifiers:: MONDO: MONDO:0001210; MedGen: C0423224; Human Phenotype Ontology: HP:0000490

Name:: Dysarthria
Identifiers:: MedGen: C0013362; Human Phenotype Ontology: HP:0001260

Name:: Delayed speech and language development
Identifiers:: MedGen: C0454644; Human Phenotype Ontology: HP:0000750

Name:: Specific learning disability
Identifiers:: MONDO: MONDO:0016225; MedGen: C4025790; Human Phenotype Ontology: HP:0001328

Name:: Broad face
Identifiers:: MedGen: C1859680; Human Phenotype Ontology: HP:0000283

Name:: Prominent nasal bridge
Identifiers:: MedGen: C1854113; Human Phenotype Ontology: HP:0000426

Name:: Strabismus
Identifiers:: MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486

Name:: Diastema
Identifiers:: MedGen: C0011998; Human Phenotype Ontology: HP:0000699

Name:: Swan neck-like deformities of the fingers
Identifiers:: MedGen: C1849152; Human Phenotype Ontology: HP:0006150

Name:: Metatarsus valgus
Identifiers:: MedGen: C4082144; Human Phenotype Ontology: HP:0010508

Name:: Increased overbite
Synonyms:: Overbite
Identifiers:: MedGen: C0266063; Human Phenotype Ontology: HP:0011094

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320983	Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital	criteria provided, single submitter (Talkowski Lab Assertion Criteria for BCA 2016)	Pathogenic (Aug 20, 2016)	de novo	research	PubMed (11) [See all records that cite these PMIDs] 17847001, 23708187, 22726846, 25217958, 25326637, 25363768, 26402605, 23160955, 25418537, 25529582, 27841880 Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000320983

Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

criteria provided, single submitter

(Talkowski Lab Assertion Criteria for BCA 2016)

Pathogenic
(Aug 20, 2016)

de novo

research

PubMed (11)
[See all records that cite these PMIDs]

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

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	research

Citations

PubMed

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM.

Am J Hum Genet. 2007 Oct;81(4):768-79. Epub 2007 Aug 28.

PubMed [citation]

PMID:: 17847001
PMCID:: PMC2227926

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, et al.

Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.

PubMed [citation]

PMID:: 23708187
PMCID:: PMC3704157

See all PubMed Citations (11)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320983.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (11)

#	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: Oct 8, 2024

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