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NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) AND MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2006
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:
RCV000003398.5

Allele description

NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys)

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.1680G>C (p.Trp560Cys)
HGVS:
  • NC_000009.12:g.131520175G>C
  • NG_008896.1:g.22274G>C
  • NM_001077365.2:c.1680G>CMANE SELECT
  • NM_001077366.2:c.1518G>C
  • NM_001136113.2:c.1680G>C
  • NM_001136114.2:c.1329G>C
  • NM_001353193.2:c.1746G>C
  • NM_001353194.2:c.1518G>C
  • NM_001353195.2:c.1329G>C
  • NM_001353196.2:c.1590G>C
  • NM_001353197.2:c.1584G>C
  • NM_001353198.2:c.1584G>C
  • NM_001353199.2:c.1395G>C
  • NM_001353200.2:c.1224G>C
  • NM_001374689.1:c.1668G>C
  • NM_001374690.1:c.1461G>C
  • NM_001374691.1:c.1329G>C
  • NM_001374692.1:c.1329G>C
  • NM_001374693.1:c.1329G>C
  • NM_001374695.1:c.1290G>C
  • NM_007171.4:c.1746G>C
  • NP_001070833.1:p.Trp560Cys
  • NP_001070834.1:p.Trp506Cys
  • NP_001129585.1:p.Trp560Cys
  • NP_001129586.1:p.Trp443Cys
  • NP_001340122.2:p.Trp582Cys
  • NP_001340123.1:p.Trp506Cys
  • NP_001340124.1:p.Trp443Cys
  • NP_001340125.1:p.Trp530Cys
  • NP_001340126.2:p.Trp528Cys
  • NP_001340127.2:p.Trp528Cys
  • NP_001340128.2:p.Trp465Cys
  • NP_001340129.1:p.Trp408Cys
  • NP_001361618.1:p.Trp556Cys
  • NP_001361619.1:p.Trp487Cys
  • NP_001361620.1:p.Trp443Cys
  • NP_001361621.1:p.Trp443Cys
  • NP_001361622.1:p.Trp443Cys
  • NP_001361624.1:p.Trp430Cys
  • NP_009102.4:p.Trp582Cys
  • LRG_842t1:c.1746G>C
  • LRG_842t2:c.1680G>C
  • LRG_842p1:p.Trp582Cys
  • LRG_842p2:p.Trp560Cys
  • NC_000009.11:g.134395562G>C
  • NR_148391.2:n.1714G>C
  • NR_148392.2:n.1932G>C
  • NR_148393.2:n.1853G>C
  • NR_148394.2:n.1607G>C
  • NR_148395.2:n.2005G>C
  • NR_148396.2:n.1639G>C
  • NR_148397.2:n.1764G>C
  • NR_148398.2:n.1719G>C
  • NR_148399.2:n.2245G>C
  • NR_148400.2:n.1844G>C
  • Q9Y6A1:p.Trp582Cys
Protein change:
W408C; TRP582CYS
Links:
UniProtKB: Q9Y6A1#VAR_065034; OMIM: 607423.0007; dbSNP: rs119462984
NCBI 1000 Genomes Browser:
rs119462984
Molecular consequence:
  • NM_001077365.2:c.1680G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.1680G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136114.2:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.1746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353195.2:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353196.2:c.1590G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.1584G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.1584G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353199.2:c.1395G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353200.2:c.1224G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.1668G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.1461G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374691.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374692.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374695.1:c.1290G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.1746G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.1714G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1932G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1853G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.1607G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.2005G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.1639G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1764G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1719G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.2245G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.1844G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023556OMIM
no assertion criteria provided
Pathogenic
(May 1, 2006) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

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, SCV000023556.4

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

Description

For discussion of the trp582-to-cys (W582C) mutation in the POMT1 gene that was found in compound heterozygous state in patients with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155) by van Reeuwijk et al. (2006), see 607423.0006.

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

Last Updated: Apr 23, 2022