46;XX;t(3;14)(q25;q11.2)dn AND Autistic behavior

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:: RCV000258693.1

Allele description [Variation Report for 46;XX;t(3;14)(q25;q11.2)dn]

46;XX;t(3;14)(q25;q11.2)dn

Variant type:: Translocation
Cytogenetic location:: 14q11.2
Preferred name:: 46;XX;t(3;14)(q25;q11.2)dn

Condition(s)

Name:: Autistic behavior
Identifiers:: MedGen: C0856975; Human Phenotype Ontology: HP:0000729

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320903	Talkowski 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 novo	research	PubMed (7) [See all records that cite these PMIDs] 23160955, 25217958, 25326637, 25363768, 26402605, 25529582, 27841880 Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000320903

Talkowski 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 novo

research

PubMed (7)
[See all records that cite these PMIDs]

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, et al.

Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.

PubMed [citation]

PMID:: 23160955
PMCID:: PMC3528801

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, et al.

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.

PubMed [citation]

PMID:: 25217958
PMCID:: PMC4177294

See all PubMed Citations (7)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320903.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (7)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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