NM_019066.4(MAGEL2):c.3181_3182delAT (p.Ile1061Hisfs) AND Schaaf-yang syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000074486.5

Allele description

NM_019066.4(MAGEL2):c.3181_3182delAT (p.Ile1061Hisfs)

Gene:

MAGEL2:MAGE family member L2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q11.2

Genomic location:

Preferred name:

NM_019066.4(MAGEL2):c.3181_3182delAT (p.Ile1061Hisfs)

Other names:

MAGEL2, 2-BP DEL, 3181AT

HGVS:

NC_000015.10:g.23644561_23644562delAT
NG_016776.1:g.8285_8286delAT
NM_019066.4:c.3181_3182delAT
NP_061939.3:p.Ile1061Hisfs
NC_000015.9:g.23889708_23889709delAT

Links:

OMIM: 605283.0003; dbSNP: rs398122417

NCBI 1000 Genomes Browser:

rs398122417

Molecular consequence:

NM_019066.4:c.3181_3182delAT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Schaaf-yang syndrome (SHFYNG)
Identifiers:: MedGen: C3809877; OMIM: 615547

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108571	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000108571

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2013)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y.

Nat Genet. 2013 Nov;45(11):1405-8. doi: 10.1038/ng.2776. Epub 2013 Sep 29.

PubMed [citation]

PMID:: 24076603
PMCID:: PMC3819162

Details of each submission

From OMIM, SCV000108571.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 5-year-old boy with Schaaf-Yang syndrome (SHFYNG; 615547), Schaaf et al. (2013) identified a de novo heterozygous 2-bp deletion (c.3181_3182delAT) in the MAGEL2 gene, resulting in a frameshift and premature termination (Ile1061fs) on the paternal allele. The mutation was found by whole-exome sequencing.

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

Last Updated: Sep 6, 2017

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