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46;XY;t(5;7)(q35;q33)dn AND multiple conditions

Germline classification:
Pathogenic (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:
RCV000258692.1

Allele description [Variation Report for 46;XY;t(5;7)(q35;q33)dn]

46;XY;t(5;7)(q35;q33)dn

Variant type:
Translocation
Cytogenetic location:
5q35
Preferred name:
46;XY;t(5;7)(q35;q33)dn

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Tall stature
Identifiers:
MedGen: C0241240; Human Phenotype Ontology: HP:0000098
Name:
Macrocephaly
Synonyms:
Macrocephalus; large head
Identifiers:
MedGen: C2243051; Human Phenotype Ontology: HP:0000256
Name:
Generalized myoclonic seizure
Synonyms:
Generalized myoclonic seizures
Identifiers:
MedGen: C4021759; Human Phenotype Ontology: HP:0002123
Name:
Premature eruption of permanent teeth
Identifiers:
MedGen: C4021601; Human Phenotype Ontology: HP:0006337
Name:
Abnormal ventricular septum morphology
Identifiers:
MedGen: C4021264; Human Phenotype Ontology: HP:0010438
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320991Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
criteria provided, single submitter

(Talkowski Lab Assertion Criteria for BCA 2016)		Pathogenic
(Aug 20, 2016) 		de novoresearch

PubMed (8)
[See all records that cite these PMIDs]

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.

Höglund P, Kurotaki N, Kytölä S, Miyake N, Somer M, Matsumoto N.

J Med Genet. 2003 Jan;40(1):51-4. No abstract available.

PubMed [citation]
PMID:
12525543
PMCID:
PMC1735268

Familial gigantism caused by an NSD1 mutation.

van Haelst MM, Hoogeboom JJ, Baujat G, Brüggenwirth HT, Van de Laar I, Coleman K, Rahman N, Niermeijer MF, Drop SL, Scambler PJ.

Am J Med Genet A. 2005 Nov 15;139(1):40-4.

PubMed [citation]
PMID:
16222665
See all PubMed Citations (8)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320991.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 13, 2023