VCV000268041.1 - ClinVar

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

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

Variation ID: 268041 Accession: VCV000268041.1

Type and length

Translocation, -

Location

Cytogenetic: 7q33 5q35 -

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.
Abnormal ventricular septum morphology Generalized myoclonic seizure Global developmental delay Macrocephaly Premature eruption of permanent teeth Tall stature Ventricular septal defect	Pathogenic (1)	criteria provided, single submitter	Aug 20, 2016	RCV000258692.1

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	Macrocephaly Premature eruption of permanent teeth Ventricular septal defect Tall stature Global developmental delay Generalized myoclonic seizure Abnormal ventricular septum morphology Affected status: yes Allele origin: de novo	Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital Accession: SCV000320991.1 First in ClinVar: Nov 13, 2016 Last updated: Nov 13, 2016	Publications: PubMed (8) PubMed: 27841880‚ 12525543‚ 16222665‚ 11896389‚ 16329110‚ 12464997‚ 12676901‚ 14997421 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
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?	Kanemoto N	American journal of medical genetics. Part A	2006	PMID: 16329110
Familial gigantism caused by an NSD1 mutation.	van Haelst MM	American journal of medical genetics. Part A	2005	PMID: 16222665
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.	Baujat G	American journal of human genetics	2004	PMID: 14997421
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.	Nagai T	Journal of medical genetics	2003	PMID: 12676901
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.	Höglund P	Journal of medical genetics	2003	PMID: 12525543
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.	Douglas J	American journal of human genetics	2003	PMID: 12464997
Haploinsufficiency of NSD1 causes Sotos syndrome.	Kurotaki N	Nature genetics	2002	PMID: 11896389

Text-mined citations for this variant ...

Record last updated Oct 08, 2024

ClinVar Genomic variation as it relates to human health

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

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...