VCV000267940.1 - ClinVar

45;XY;t(11;18;13;21;17)(p11.2;p11.2;q33;q11;q11)dn

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

45;XY;t(11;18;13;21;17)(p11.2;p11.2;q33;q11;q11)dn

Variation ID: 267940 Accession: VCV000267940.1

Type and length

Translocation, -

Location

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Nov 13, 2016	Nov 13, 2016	Aug 20, 2016

HGVS

Protein change

Other names

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

Genes

No affected genes found.

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Absent speech Clinodactyly Gastroesophageal reflux Gastrostomy tube feeding in infancy Global developmental delay Single transverse palmar crease Tetralogy of Fallot with absent pulmonary valve	Pathogenic (1)	criteria provided, single submitter	Aug 20, 2016	RCV000258624.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Aug 20, 2016)	criteria provided, single submitter (Talkowski Lab Assertion Criteria for BCA 2016) Method: research	Tetralogy of Fallot with absent pulmonary valve Clinodactyly Single transverse palmar crease Gastroesophageal reflux Gastrostomy tube feeding in infancy Global developmental delay Absent speech Affected status: yes Allele origin: de novo	Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital Accession: SCV000320888.1 First in ClinVar: Nov 13, 2016 Last updated: Nov 13, 2016	Publications: PubMed (10) PubMed: 27841880‚ 11170097‚ 4705937‚ 825713‚ 1404301‚ 14334740‚ 9037347‚ 16691587‚ 22770980‚ 26333423 Sex: male

Germline Functional Evidence

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 germline classification of this variant

Title	Author	Journal	Year	Link
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.	Redin C	Nature genetics	2017	PMID: 27841880
A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.	Labonne JD	American journal of medical genetics. Part A	2015	PMID: 26333423
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.	Kim HG	American journal of human genetics	2012	PMID: 22770980
Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.	Wester U	American journal of medical genetics. Part A	2006	PMID: 16691587
Familial Del(18p) syndrome.	Tsukahara M	American journal of medical genetics	2001	PMID: 11170097
Familial deletion of chromosome 18 (p11.2).	Velagaleti GV	Annales de genetique	1996	PMID: 9037347
18p- syndrome and hypopituitarism.	Artman HG	Journal of medical genetics	1992	PMID: 1404301
[Pituitary dwarfism and "Goldenhar type= multiple deformities in a patient with deletion of the short arm of chromosome 18].	Buffoni L	Minerva pediatrica	1976	PMID: 825713
Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18.	Leisti J	Archives of disease in childhood	1973	PMID: 4705937
FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA.	UCHIDA IA	American journal of human genetics	1965	PMID: 14334740

Text-mined citations for this variant ...

Record last updated Oct 08, 2024

ClinVar Genomic variation as it relates to human health

45;XY;t(11;18;13;21;17)(p11.2;p11.2;q33;q11;q11)dn

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...