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46;XY;t(1;5)(p35.3;q31.3)dn

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 23, 2016)
Last evaluated:
Aug 20, 2016
Accession:
VCV000267817.1
Variation ID:
267817
Description:
translocation
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46;XY;t(1;5)(p35.3;q31.3)dn

Allele ID
263193
Variant type
Translocation
Variant length
-
Cytogenetic location
1p35.3
5q31.3
Genomic location
-
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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
Pathogenic
(Aug 20, 2016)
criteria provided, single submitter
Method: research
Coarctation of aorta
Bicuspid aortic valve
Bilateral cryptorchidism
Hypospadias
Inguinal hernia
Wide intermamillary distance
Short neck
Abnormal number of hair whorls
Downslanted palpebral fissures
Epicanthus
Wide nose
Smooth philtrum
Thin vermilion border
Low-set, posteriorly rotated ears
Thickened helices
Hypertelorism
Strabismus
Global developmental delay
Allele origin: de novo
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital
Accession: SCV000320765.1
Submitted: (Sep 23, 2016)
Evidence details
Publications
PubMed (4)

Functional evidence

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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

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Title Author Journal Year Link
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Redin C Nature genetics 2017 PMID: 27841880
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Wright CF Lancet (London, England) 2015 PMID: 25529582
The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I Nature 2014 PMID: 25363768
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Xia F American journal of human genetics 2014 PMID: 24791903

Record last updated Sep 23, 2021