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46;XY;t(10;17)(p13;q23)dn

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 23, 2016)
Last evaluated:
Aug 20, 2016
Accession:
VCV000268030.1
Variation ID:
268030
Description:
translocation
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46;XY;t(10;17)(p13;q23)dn

Allele ID
263406
Variant type
Translocation
Variant length
-
Cytogenetic location
10p13
17q23
Genomic location
-
HGVS
-
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 20, 2016 RCV000258785.1
Help No affected genes found.

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 20, 2016)
criteria provided, single submitter
Method: research
Retrognathia
Open mouth
Robin sequence
Global developmental delay
Feeding difficulties
Hypoplasia of deltoid muscle
Microretrognathia
Abnormality of the costochondral junction
Neonatal hypotonia
Abnormality of the occipital bone
Pectus carinatum
Facial asymmetry
Cleft of soft palate
Hypoplastic scapulae
Allele origin: de novo
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital
Accession: SCV000320978.1
Submitted: (Sep 23, 2016)
Evidence details
Publications
PubMed (1)

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 Mar 29, 2019