NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) AND MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1

Clinical significance:Pathogenic (Last evaluated: May 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003401.5

Allele description [Variation Report for NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)]

NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)

Gene:
POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)
HGVS:
  • NC_000009.12:g.131518945C>T
  • NG_008896.1:g.21044C>T
  • NM_001077365.2:c.1474C>TMANE SELECT
  • NM_001077366.2:c.1312C>T
  • NM_001136113.2:c.1474C>T
  • NM_001136114.2:c.1123C>T
  • NM_001353193.2:c.1540C>T
  • NM_001353194.2:c.1312C>T
  • NM_001353195.2:c.1123C>T
  • NM_001353196.2:c.1384C>T
  • NM_001353197.2:c.1378C>T
  • NM_001353198.2:c.1378C>T
  • NM_001353199.2:c.1189C>T
  • NM_001353200.2:c.1018C>T
  • NM_001374689.1:c.1462C>T
  • NM_001374690.1:c.1365+408C>T
  • NM_001374691.1:c.1123C>T
  • NM_001374692.1:c.1123C>T
  • NM_001374693.1:c.1123C>T
  • NM_001374695.1:c.1084C>T
  • NM_007171.3:c.1540C>T
  • NM_007171.4:c.1540C>T
  • NP_001070833.1:p.Arg492Ter
  • NP_001070834.1:p.Arg438Ter
  • NP_001129585.1:p.Arg492Ter
  • NP_001129586.1:p.Arg375Ter
  • NP_001340122.2:p.Arg514Ter
  • NP_001340123.1:p.Arg438Ter
  • NP_001340124.1:p.Arg375Ter
  • NP_001340125.1:p.Arg462Ter
  • NP_001340126.2:p.Arg460Ter
  • NP_001340127.2:p.Arg460Ter
  • NP_001340128.2:p.Arg397Ter
  • NP_001340129.1:p.Arg340Ter
  • NP_001361618.1:p.Arg488Ter
  • NP_001361620.1:p.Arg375Ter
  • NP_001361621.1:p.Arg375Ter
  • NP_001361622.1:p.Arg375Ter
  • NP_001361624.1:p.Arg362Ter
  • NP_009102.3:p.Arg514Ter
  • NP_009102.4:p.Arg514Ter
  • LRG_842t1:c.1540C>T
  • LRG_842t2:c.1474C>T
  • LRG_842p1:p.Arg514Ter
  • LRG_842p2:p.Arg492Ter
  • NC_000009.11:g.134394332C>T
  • NP_009102.3:p.Arg514*
  • NR_148391.2:n.1508C>T
  • NR_148392.2:n.1726C>T
  • NR_148393.2:n.1647C>T
  • NR_148394.2:n.1401C>T
  • NR_148395.2:n.1799C>T
  • NR_148396.2:n.1433C>T
  • NR_148397.2:n.1558C>T
  • NR_148398.2:n.1513C>T
  • NR_148399.2:n.2039C>T
  • NR_148400.2:n.1638C>T
Protein change:
R340*; ARG514TER
Links:
OMIM: 607423.0008; dbSNP: rs119462985
NCBI 1000 Genomes Browser:
rs119462985
Molecular consequence:
  • NM_001374690.1:c.1365+408C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148391.2:n.1508C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1726C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1647C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.1401C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.1799C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.1433C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1558C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1513C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.2039C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.1638C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001077365.2:c.1474C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001077366.2:c.1312C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001136113.2:c.1474C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001136114.2:c.1123C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353193.2:c.1540C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353194.2:c.1312C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353195.2:c.1123C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353196.2:c.1384C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353197.2:c.1378C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353198.2:c.1378C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353199.2:c.1189C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353200.2:c.1018C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374689.1:c.1462C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374691.1:c.1123C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374692.1:c.1123C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374693.1:c.1123C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374695.1:c.1084C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007171.3:c.1540C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007171.4:c.1540C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023559OMIMno assertion criteria providedPathogenic
(May 1, 2006)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F.

Neuromuscul Disord. 2000 Dec;10(8):541-7.

PubMed [citation]
PMID:
11053679

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H.

Hum Mutat. 2006 May;27(5):453-9.

PubMed [citation]
PMID:
16575835

Details of each submission

From OMIM, SCV000023559.4

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

Description

In an Italian patient with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155), originally reported by Villanova et al. (2000), van Reeuwijk et al. (2006) identified compound heterozygosity for 2 mutations in the POMT1 gene: a 1540C-T transition, resulting in an arg514-to-ter (R514X) substitution in the 3-prime MIR region, and a 1770G-C transversion, resulting in gln590-to-his (Q590H; 607423.0009) substitution in a highly conserved residue. Van Reeuwijk et al. (2006) suggested that the relatively milder phenotype, compared to those with Walker-Warburg syndrome (MDDGA1; 236670), observed in this patient was due to some residual POMT1 activity.

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

Last Updated: Feb 27, 2021

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