NM_002408.3(MGAT2):c.1017T>A (p.Cys339Ter) AND Carbohydrate-deficient glycoprotein syndrome type II

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 21, 2012
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:: RCV000007408.1

Allele description

NM_002408.3(MGAT2):c.1017T>A (p.Cys339Ter)

Gene:

MGAT2:mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.3

Genomic location:

Preferred name:

NM_002408.3(MGAT2):c.1017T>A (p.Cys339Ter)

HGVS:

NC_000014.9:g.49622285T>A
NG_008920.1:g.6515T>A
NG_033054.1:g.3347A>T
NM_001001.4:c.-1760A>T
NM_002408.3:c.1017T>A
NP_002399.1:p.Cys339Ter
NC_000014.8:g.50089003T>A

Protein change:

C339*; CYS339TER

Links:

OMIM: 602616.0004; dbSNP: rs104894449

NCBI 1000 Genomes Browser:

rs104894449

Molecular consequence:

NM_001001.4:c.-1760A>T - 2KB upstream variant - [Sequence Ontology: SO:0001636]
NM_002408.3:c.1017T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Carbohydrate-deficient glycoprotein syndrome type II (CDG2A)
Synonyms:: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG IIa; Congenital disorder of glycosylation type 2A; See all synonyms [MedGen]
Identifiers:: MedGen: C0349654; Orphanet: 79329; OMIM: 212066
Age of onset:: Neonatal/infancy
Prevalence:: <1 / 1 000 000 79329

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027607	OMIM	no assertion criteria provided	Pathogenic (Feb 21, 2012)	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

SCV000027607

OMIM

no assertion criteria provided

Pathogenic
(Feb 21, 2012)

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

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.

Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N.

J Med Genet. 2000 Nov;37(11):875-7. Review. No abstract available.

PubMed [citation]

PMID:: 11228641
PMCID:: PMC1734478

Details of each submission

From OMIM, SCV000027607.1

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

Description

See 602616.0003 and Cormier-Daire et al. (2000).

#	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: Jul 1, 2015

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