NM_017739.3(POMGNT1):c.1895+1G>T AND Muscle eye brain disease

Clinical significance:Likely pathogenic (Last evaluated: May 2, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000050006.2

Allele description [Variation Report for NM_017739.3(POMGNT1):c.1895+1G>T]

NM_017739.3(POMGNT1):c.1895+1G>T

Genes:
POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
TSPAN1:tetraspanin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_017739.3(POMGNT1):c.1895+1G>T
HGVS:
  • NC_000001.11:g.46189457C>A
  • NG_009205.2:g.35849G>T
  • NM_001243766.1:c.1869+27G>T
  • NM_001290129.1:c.1829+1G>T
  • NM_001290130.1:c.1466+1G>T
  • NM_017739.3:c.1895+1G>T
  • NC_000001.10:g.46655129C>A
Links:
dbSNP: rs386834024
NCBI 1000 Genomes Browser:
rs386834024
Molecular consequence:
  • NM_001243766.1:c.1869+27G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001290129.1:c.1829+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001290130.1:c.1466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_017739.3:c.1895+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Muscle eye brain disease (MDDGA3)
Synonyms:
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
Identifiers:
MedGen: C0457133; Orphanet: 588; Orphanet: 899; OMIM: 253280

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000082415Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedprobable-pathogenicnot providednot provided

PubMed (3)
[See all records that cite these PMIDs]

SCV000220292Counsylcriteria provided, single submitter
Likely pathogenic
(May 2, 2014)
unknownliterature only

PubMed (3)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000082415

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot provided1not providedliterature 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.

PubMed [citation]
PMID:
19299310

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M.

J Neurol Sci. 2012 Jul 15;318(1-2):45-50. doi: 10.1016/j.jns.2012.04.008. Epub 2012 May 2.

PubMed [citation]
PMID:
22554691
PMCID:
PMC3405532
See all PubMed Citations (4)

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082415.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (3)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Counsyl, SCV000220292.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 17, 2019

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