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46;X;t(X;8;2)(Xpter>Xq21.2::2q14.2>2qter;8qter>8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter)dn

Interpretation:: Uncertain significance
Review status:: criteria provided, single submitter
Submissions:: 1
First in ClinVar:: Nov 13, 2016
Most recent Submission:: Nov 13, 2016
Last evaluated:: Aug 20, 2016
Accession:: VCV000267801.1
Variation ID:: 267801
Description:: translocation

46;X;t(X;8;2)(Xpter>Xq21.2::2q14.2>2qter;8qter>8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter)dn

Allele ID: 263177
Variant type: Translocation
Variant length: -
Cytogenetic location: -
Genomic location: -
HGVS: -
Protein change: -
Other names: -
Canonical SPDI: -
Functional consequence: -
Global minor allele frequency (GMAF): -
Allele frequency: -
Links: -

Aggregate interpretations per condition

Interpreted condition	Interpretation	Number of submissions	Review status	Last evaluated	Variation/condition record
3-4 toe syndactyly Abnormal sex determination Aplasia of the ovary Clinodactyly of the 5th toe EEG abnormality Primary amenorrhea Uterine hypoplasia	Uncertain significance	1	criteria provided, single submitter	Aug 20, 2016	RCV000258768.1

No affected genes found.

Submitted interpretations and evidence

Interpretation (Last evaluated)	Review status (Assertion criteria)	Condition (Inheritance)	Submitter	More information
Uncertain significance (Aug 20, 2016)	criteria provided, single submitter (Talkowski Lab Assertion Criteria for BCA 2016) Method: research	- Primary amenorrhea - Abnormal sex determination - Aplasia of the ovary - Uterine hypoplasia - EEG abnormality - 3-4 toe syndactyly - Clinodactyly of the 5th toe Affected status: yes Allele origin: de novo	Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital Accession: SCV000320752.1 First in ClinVar: Nov 13, 2016 Last updated: Nov 13, 2016	Publications: PubMed (1) PubMed: 27841880 Sex: female

Functional evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Title	Author	Journal	Year	Link
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.	Redin C	Nature genetics	2017	PMID: 27841880

Record last updated Apr 25, 2022