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NM_017739.4(POMGNT1):c.25dup (p.Leu9fs) AND Muscle eye brain disease

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000050010.1

Allele description [Variation Report for NM_017739.4(POMGNT1):c.25dup (p.Leu9fs)]

NM_017739.4(POMGNT1):c.25dup (p.Leu9fs)

Gene:
POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_017739.4(POMGNT1):c.25dup (p.Leu9fs)
HGVS:
  • NC_000001.11:g.46197801dup
  • NG_009205.2:g.27509dup
  • NG_009205.3:g.27509dup
  • NM_001243766.2:c.25dup
  • NM_017739.4:c.25dupMANE SELECT
  • NP_001230695.2:p.Leu9fs
  • NP_060209.4:p.Leu9fs
  • LRG_701t1:c.25dup
  • LRG_701t2:c.25dup
  • LRG_701:g.27509dup
  • LRG_701p1:p.Leu9fs
  • LRG_701p2:p.Leu9fs
  • NC_000001.10:g.46663473dup
  • NM_017739.3:c.25dupC
Protein change:
L9fs
Links:
dbSNP: rs386834027
NCBI 1000 Genomes Browser:
rs386834027
Molecular consequence:
  • NM_001243766.2:c.25dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017739.4:c.25dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Muscle eye brain disease (MEB)
Synonyms:
Santavuori congenital muscular dystrophy
Identifiers:
MONDO: MONDO:0018939; MedGen: C0457133; Orphanet: 588; Orphanet: 899

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000082419Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
no assertion criteria provided
probable-pathogenicnot providednot provided

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

Description

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

SCV000082419

Help

Summary from all submissions

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

Citations

PubMed

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J.

Neurogenetics. 2007 Nov;8(4):279-88. Epub 2007 Sep 29.

PubMed [citation]
PMID:
17906881

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082419.1

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

Description

Converted during submission to Likely pathogenic.

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

Last Updated: Dec 11, 2022