NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2001
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:: RCV001847572.9

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg)]

NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg)

Genes:

POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
TSPAN1:tetraspanin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg)

HGVS:

NC_000001.11:g.46192159G>C
NG_009205.3:g.33147C>G
NM_001243766.2:c.1478C>G
NM_001290129.2:c.1412C>G
NM_001290130.2:c.1049C>G
NM_017739.4:c.1478C>GMANE SELECT
NP_001230695.2:p.Pro493Arg
NP_001277058.2:p.Pro471Arg
NP_001277059.2:p.Pro350Arg
NP_060209.4:p.Pro493Arg
LRG_701t1:c.1478C>G
LRG_701t2:c.1478C>G
LRG_701:g.33147C>G
LRG_701p1:p.Pro493Arg
LRG_701p2:p.Pro493Arg
NC_000001.10:g.46657831G>C
NG_009205.2:g.33147C>G
Q8WZA1:p.Pro493Arg

Protein change:

P350R; PRO493ARG

Links:

UniProtKB: Q8WZA1#VAR_023108; OMIM: 606822.0005; dbSNP: rs28942068

NCBI 1000 Genomes Browser:

rs28942068

Molecular consequence:

NM_001243766.2:c.1478C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001290129.2:c.1412C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001290130.2:c.1049C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_017739.4:c.1478C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Synonyms:: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
Identifiers:: MONDO: MONDO:0009667; MedGen: C3151519; OMIM: 253280

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024363	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2001)	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

SCV000024363

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2001)

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

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T.

Dev Cell. 2001 Nov;1(5):717-24.

PubMed [citation]

PMID:: 11709191

Details of each submission

From OMIM, SCV000024363.2

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

Description

In a patient with muscle-eye-brain disease (MDDGA3; 253280) who was the son of nonconsanguineous parents, Yoshida et al. (2001) found compound heterozygosity for mutations in the POMGNT1 gene: a pro493-to-arg (P493R) missense mutation resulting from a 1572C-G transversion in exon 17, and a 1-bp deletion (1970delG) in exon 21 that caused a frameshift and premature stop at residue 633 (606822.0006).

#	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: Nov 3, 2024

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