NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) AND Neurodevelopmental disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 21, 2022
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:: RCV002277321.2

Allele description [Variation Report for NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)]

NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

15q11.2

Genomic location:

Preferred name:

NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)

HGVS:

NC_000015.10:g.23645753dup
NG_016776.1:g.7100dup
NM_019066.5:c.1996dupMANE SELECT
NP_061939.3:p.Gln666fs
LRG_1046t1:c.1996dup
LRG_1046:g.7100dup
LRG_1046p1:p.Gln666fs
NC_000015.9:g.23890893_23890894insG
NC_000015.9:g.23890900dup
NM_019066.4:c.1996dup
NM_019066.4:c.1996dupC
NM_019066.5(MAGEL2):c.1996dupMANE SELECT
NM_019066.5:c.1996dupCMANE SELECT
p.Gln666fs
p.Q666fs

Protein change:

Q666fs

Links:

OMIM: 605283.0005; dbSNP: rs770374710

NCBI 1000 Genomes Browser:

rs770374710

Molecular consequence:

NM_019066.5:c.1996dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Neurodevelopmental disorder
Identifiers:: MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002564471	Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 21, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002564471

Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 21, 2022)

germline

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV002564471.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine