46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)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:: RCV000258691.2

Allele description [Variation Report for 46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn]

46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn

Variant type:: Complex
Preferred name:: 46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn

Condition(s)

Name:: Epicanthus
Synonyms:: Epicanthal fold
Identifiers:: MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286

Name:: Short phalanx of finger
Identifiers:: MedGen: C0877165; Human Phenotype Ontology: HP:0009803

Name:: Hypertonia
Identifiers:: MedGen: C0026826; Human Phenotype Ontology: HP:0001276

Name:: Brachycephaly
Identifiers:: MedGen: C0221356; Human Phenotype Ontology: HP:0000248

Name:: Deeply set eye
Synonyms:: Enophthalmos
Identifiers:: MONDO: MONDO:0001210; MedGen: C0423224; Human Phenotype Ontology: HP:0000490

Name:: Macrotia
Identifiers:: MedGen: C0152421; Human Phenotype Ontology: HP:0000400

Name:: Short nose
Synonyms:: Nasal hypoplasia
Identifiers:: MedGen: C1854114; Human Phenotype Ontology: HP:0003196

Name:: Wide mouth
Identifiers:: MedGen: C0024433; Human Phenotype Ontology: HP:0000154

Name:: Hydrocele testis
Synonyms:: Hydrocele
Identifiers:: MONDO: MONDO:0004920; MedGen: C1720771; Human Phenotype Ontology: HP:0000034

Name:: Umbilical hernia
Identifiers:: MedGen: C0019322; Human Phenotype Ontology: HP:0001537

Name:: Hypoplastic nasal bridge
Identifiers:: MedGen: C1865597; Human Phenotype Ontology: HP:0005281

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320760	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 (9) [See all records that cite these PMIDs] 25217958, 23033978, 25356899, 26264232, 26757981, 25529582, 25363768, 26325558, 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

SCV000320760

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 (9)
[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

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

Diagnostic exome sequencing in persons with severe intellectual disability.

de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.

N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.

PubMed [citation]

PMID:: 23033978

See all PubMed Citations (9)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320760.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (9)

#	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: Jan 26, 2024

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