46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn AND multiple conditions

Germline classification:: Uncertain significance (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:: RCV000258744.1

Allele description [Variation Report for 46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn]

46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn

Variant type:: Complex
Preferred name:: 46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn

Condition(s)

Name:: Coloboma of optic nerve
Synonyms:: Optic nerve head pits, bilateral congenital; Congenital coloboma of the optic nerve; Coloboma of optic nerve (disease)
Identifiers:: MONDO: MONDO:0007354; MedGen: C0155299; Orphanet: 35737; OMIM: 120430; Human Phenotype Ontology: HP:0000588

Name:: Piebaldism (PBT)
Synonyms:: Piebald skin depigmentation
Identifiers:: MONDO: MONDO:0008244; MedGen: C0080024; Orphanet: 2884; OMIM: 172800; Human Phenotype Ontology: HP:0007544

Name:: Unsteady gait
Identifiers:: MedGen: C0231686; Human Phenotype Ontology: HP:0002317

Name:: Conductive hearing impairment
Synonyms:: Conductive hearing loss disorder
Identifiers:: MONDO: MONDO:0020679; MedGen: C0018777; Human Phenotype Ontology: HP:0000405

Name:: Hyperpigmentation of the skin
Synonyms:: Hyperpigmentation
Identifiers:: MONDO: MONDO:0019289; MedGen: C0162834; Human Phenotype Ontology: HP:0000953

Name:: Bruising susceptibility
Synonyms:: Easy bruising
Identifiers:: MedGen: C0423798; Human Phenotype Ontology: HP:0000978

Name:: Hypopigmented skin patches
Identifiers:: MedGen: C1836735; Human Phenotype Ontology: HP:0001053

Name:: Intellectual disability, mild
Identifiers:: MedGen: C0026106; Human Phenotype Ontology: HP:0001256

Name:: Joint laxity
Identifiers:: MedGen: C0086437

Name:: Bulbous tips of toes
Identifiers:: MedGen: C4025747; Human Phenotype Ontology: HP:0001782

Name:: White forelock
Identifiers:: MedGen: C0344312; Human Phenotype Ontology: HP:0002211

Name:: Abnormality of thyroid physiology
Identifiers:: MedGen: C0857576; Human Phenotype Ontology: HP:0002926

Name:: Reduced visual acuity
Identifiers:: MedGen: C0234632; Human Phenotype Ontology: HP:0007663

Name:: Lower limb asymmetry
Identifiers:: MedGen: C0023221; Human Phenotype Ontology: HP:0100559

Name:: Hyperconvex toenail
Identifiers:: MedGen: C4022661; Human Phenotype Ontology: HP:0030055

Name:: Ventricular septal defect
Identifiers:: MONDO: MONDO:0002070; MedGen: C0018818; OMIM: PS614429; Human Phenotype Ontology: HP:0001629

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320783	Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital	criteria provided, single submitter (Talkowski Lab Assertion Criteria for BCA 2016)	Uncertain significance (Aug 20, 2016)	de novo	research	PubMed (1) [See all records that cite this PMID] Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000320783

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

criteria provided, single submitter

(Talkowski Lab Assertion Criteria for BCA 2016)

Uncertain significance
(Aug 20, 2016)

de novo

research

PubMed (1)
[See all records that cite this PMID]

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

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, et al.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

PubMed [citation]

PMID:: 27841880
PMCID:: PMC5307971

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320783.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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: Oct 8, 2024

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