46;XX;t(4;14)(p15.2;q13)dn AND multiple conditions

Germline classification:: Likely 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:: RCV000258690.1

Allele description [Variation Report for 46;XX;t(4;14)(p15.2;q13)dn]

46;XX;t(4;14)(p15.2;q13)dn

Variant type:: Translocation
Cytogenetic location:: 14q13
Preferred name:: 46;XX;t(4;14)(p15.2;q13)dn

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

Name:: Posteriorly rotated ears
Identifiers:: MedGen: C0431478; Human Phenotype Ontology: HP:0000358

Name:: Anemia
Synonyms:: Anemia (disease)
Identifiers:: MONDO: MONDO:0002280; MedGen: C0002871; Human Phenotype Ontology: HP:0001903

Name:: Tapered finger
Synonyms:: Tapered fingers
Identifiers:: MedGen: C0426886; Human Phenotype Ontology: HP:0001182

Name:: Hemangioma
Identifiers:: MONDO: MONDO:0006500; MedGen: C0018916; Human Phenotype Ontology: HP:0001028

Name:: Clinodactyly of the 5th finger
Identifiers:: MedGen: C1850049; Human Phenotype Ontology: HP:0004209

Name:: Delayed speech and language development
Identifiers:: MedGen: C0454644; Human Phenotype Ontology: HP:0000750

Name:: Abnormality of the dentition
Identifiers:: MedGen: C0262444; Human Phenotype Ontology: HP:0000164

Name:: Macrocephaly
Synonyms:: Macrocephalus; large head
Identifiers:: MedGen: C2243051; Human Phenotype Ontology: HP:0000256

Name:: Bruising susceptibility
Synonyms:: Easy bruising
Identifiers:: MedGen: C0423798; Human Phenotype Ontology: HP:0000978

Name:: Gastroesophageal reflux
Identifiers:: MedGen: C4317146; Human Phenotype Ontology: HP:0002020

Name:: Allergy
Identifiers:: MONDO: MONDO:0005271; MedGen: C0020517; Human Phenotype Ontology: HP:0012393

Name:: Heart murmur
Identifiers:: MedGen: C0018808; Human Phenotype Ontology: HP:0030148

Name:: Hypotonia
Synonyms:: Muscular hypotonia; poor muscle tone
Identifiers:: MedGen: C0026827; Human Phenotype Ontology: HP:0001252

Name:: Asthma
Identifiers:: MONDO: MONDO:0004979; MedGen: C0004096; Human Phenotype Ontology: HP:0002099

Recent activity

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Alteromonadales bacterium HD-C-03-6 partial 16S rRNA gene, isolate HD-C-03-6
Alteromonadales bacterium HD-C-03-6 partial 16S rRNA gene, isolate HD-C-03-6
gi|164453877|emb|AM931118.1|

Nucleotide
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa gravis of Herlitz

MedGen
C0079683[conceptid] (1)
MedGen
Uncultured marine archaeon DCM74161 16S ribosomal RNA gene, partial sequence
Uncultured marine archaeon DCM74161 16S ribosomal RNA gene, partial sequence
gi|6049056|gb|AF121988.1|

Nucleotide
Prostate Intraductal Carcinoma
Prostate Intraductal Carcinoma

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320839	Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital	criteria provided, single submitter (Talkowski Lab Assertion Criteria for BCA 2016)	Likely pathogenic (Aug 20, 2016)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 23337948, 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

SCV000320839

Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

criteria provided, single submitter

(Talkowski Lab Assertion Criteria for BCA 2016)

Likely pathogenic
(Aug 20, 2016)

de novo

research

PubMed (2)
[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

A mutation in NPAS3 segregates with mental illness in a small family.

Yu L, Arbez N, Nucifora LG, Sell GL, Delisi LE, Ross CA, Margolis RL, Nucifora FC Jr.

Mol Psychiatry. 2014 Jan;19(1):7-8. doi: 10.1038/mp.2012.192. Epub 2013 Jan 22. No abstract available.

PubMed [citation]

PMID:: 23337948

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, et al.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

PubMed [citation]

PMID:: 27841880
PMCID:: PMC5307971

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320839.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	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: Oct 8, 2024

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