NM_001077365.2(POMT1):c.1175+1G>A AND MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1

Clinical significance:Pathogenic (Last evaluated: May 23, 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:
RCV000003407.6

Allele description [Variation Report for NM_001077365.2(POMT1):c.1175+1G>A]

NM_001077365.2(POMT1):c.1175+1G>A

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.1175+1G>A
HGVS:
  • NC_000009.12:g.131513332G>A
  • NG_008896.1:g.15431G>A
  • NM_001077365.2:c.1175+1G>AMANE SELECT
  • NM_001077366.2:c.1013+1G>A
  • NM_001136113.1:c.1175+1G>A
  • NM_001136114.1:c.824+1G>A
  • NM_001353193.2:c.1241+1G>A
  • NM_001353194.2:c.1013+1G>A
  • NM_001353195.2:c.824+1G>A
  • NM_001353196.2:c.1085+1G>A
  • NM_001353197.2:c.1079+1G>A
  • NM_001353198.2:c.1079+1G>A
  • NM_001353199.2:c.890+1G>A
  • NM_001353200.2:c.719+1G>A
  • NM_007171.3:c.1241+1G>A
  • LRG_842t2:c.1175+1G>A
  • NC_000009.11:g.134388719G>A
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
IVS12DS, G-A, +1
Links:
OMIM: 607423.0014; dbSNP: rs1051679985
NCBI 1000 Genomes Browser:
rs1051679985
Molecular consequence:
  • NM_001077365.2:c.1175+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001077366.2:c.1013+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001136113.1:c.1175+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001136114.1:c.824+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353193.2:c.1241+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353194.2:c.1013+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353195.2:c.824+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353196.2:c.1085+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353197.2:c.1079+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353198.2:c.1079+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353199.2:c.890+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353200.2:c.719+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007171.3:c.1241+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000023565OMIMno assertion criteria providedPathogenic
(May 23, 2006)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Expanding the clinical spectrum of POMT1 phenotype.

D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E.

Neurology. 2006 May 23;66(10):1564-7; discussion 1461.

PubMed [citation]
PMID:
16717220

Details of each submission

From OMIM, SCV000023565.4

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

Description

For discussion of the splice site mutation in the POMT1 gene that was found in compound heterozygous state in a patient with a severe form of muscular dystrophy (MDDGB1; 613155) by D'Amico et al. (2006), see 607423.0013.

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

Last Updated: Jun 14, 2021

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