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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
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320783Talkowski 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 novoresearch

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

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024