NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) AND Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 26, 2009
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:: RCV000030875.4

Allele description [Variation Report for NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)]

NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)

Gene:

POMT2:protein O-mannosyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)

HGVS:

NC_000014.9:g.77296223C>T
NG_008897.1:g.29660G>A
NM_013382.7:c.1057G>AMANE SELECT
NP_037514.2:p.Gly353Ser
NP_037514.2:p.Gly353Ser
LRG_844t1:c.1057G>A
LRG_844:g.29660G>A
LRG_844p1:p.Gly353Ser
NC_000014.8:g.77762566C>T
NM_013382.5:c.1057G>A
Q9UKY4:p.Gly353Ser

Protein change:

G353S; GLY353SER

Links:

UniProtKB: Q9UKY4#VAR_065040; OMIM: 607439.0012; OMIM: 607439.0014; dbSNP: rs267606970

NCBI 1000 Genomes Browser:

rs267606970

Molecular consequence:

NM_013382.7:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 (MDDGB2)
Synonyms:: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2
Identifiers:: MONDO: MONDO:0013160; MedGen: C3150416; OMIM: 613156

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023547	OMIM	no assertion criteria provided	Pathogenic (May 26, 2009)	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

SCV000023547

OMIM

no assertion criteria provided

Pathogenic
(May 26, 2009)

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 muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, et al.

Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18. Erratum in: Neurology. 2019 Aug 20;93(8):371. doi: 10.1212/WNL.0000000000007479..

PubMed [citation]

PMID:: 19299310

Details of each submission

From OMIM, SCV000023547.3

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

Description

In an Italian patient with congenital muscular dystrophy, cerebellar hypoplasia, microcephaly, and impaired intellectual development (MDDGB2; 613156), Mercuri et al. (2009) identified compound heterozygosity for 2 mutations in the POMT2 gene: a 1057G-A transition in exon 9 resulting in a gly353-to-ser (G353S) substitution, and a 2177G-A transition in exon 21, resulting in a gly726-to-glu (G726E; 607439.0015) substitution.

#	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: May 16, 2025

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