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NM_013382.7(POMT2):c.551C>T (p.Thr184Met) AND Autosomal recessive limb-girdle muscular dystrophy type 2N

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
May 4, 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:
RCV000003385.15

Allele description [Variation Report for NM_013382.7(POMT2):c.551C>T (p.Thr184Met)]

NM_013382.7(POMT2):c.551C>T (p.Thr184Met)

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.551C>T (p.Thr184Met)
Other names:
T184M
HGVS:
  • NC_000014.9:g.77302940G>A
  • NG_008897.1:g.22943C>T
  • NM_013382.7:c.551C>TMANE SELECT
  • NP_037514.2:p.Thr184Met
  • NP_037514.2:p.Thr184Met
  • LRG_844t1:c.551C>T
  • LRG_844:g.22943C>T
  • LRG_844p1:p.Thr184Met
  • NC_000014.8:g.77769283G>A
  • NM_013382.5:c.551C>T
  • Q9UKY4:p.Thr184Met
Protein change:
THR184MET
Links:
UniProtKB: Q9UKY4#VAR_065037; OMIM: 607439.0010; dbSNP: rs267606971
NCBI 1000 Genomes Browser:
rs267606971
Molecular consequence:
  • NM_013382.7:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2N
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
Identifiers:
MONDO: MONDO:0013162; MedGen: C3150418; Orphanet: 206559; OMIM: 613158

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023543OMIM
no assertion criteria provided
Pathogenic
(Nov 30, 2007)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV002579158MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(May 4, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C.

Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.

PubMed [citation]
PMID:
17923109

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.

Brain. 2007 Oct;130(Pt 10):2725-35. Epub 2007 Sep 18.

PubMed [citation]
PMID:
17878207
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000023543.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a 5-year-old Italian girl with limb-girdle muscular dystrophy (MDDGC2; 613158), Biancheri et al. (2007) identified a homozygous 551C-T transition in exon 5 of the POMT2 gene, resulting in a thr184-to-met (T184M) substitution in a conserved residue in the active site of the protein. The mutation was not found in 200 controls. She showed normal psychomotor development in the first year of life, but only learned to walk at age 18 months. Physical examination showed calf hypertrophy, increased serum creatine kinase, and mild muscle weakness. Muscle biopsy showed dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Brain MRI, ophthalmologic examination, and cognitive development were normal.

In a patient with limb-girdle muscular dystrophy, Godfrey et al. (2007) identified compound heterozygosity for 2 mutations in the POMT2 gene: T184M and a 2243G-C transversion in exon 21, resulting in a trp748-to-ser (W748S; 607439.0011) substitution. Although clinical details were limited, the patient, who had onset at age 18 months, had increased serum creatine kinase, muscle hypertrophy, low IQ, and right bundle branch block on echocardiogram, and achieved walking. MRI was not performed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From MGZ Medical Genetics Center, SCV002579158.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024