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NM_017739.4(POMGNT1):c.1928del (p.Phe643fs) 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:
RCV000050009.1

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1928del (p.Phe643fs)]

NM_017739.4(POMGNT1):c.1928del (p.Phe643fs)

Genes:
POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
TSPAN1:tetraspanin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_017739.4(POMGNT1):c.1928del (p.Phe643fs)
HGVS:
  • NC_000001.11:g.46189328del
  • NG_009205.2:g.35981del
  • NG_009205.3:g.35981del
  • NM_001243766.2:c.1902del
  • NM_001290129.2:c.1862del
  • NM_001290130.2:c.1499del
  • NM_017739.4:c.1928delMANE SELECT
  • NP_001230695.2:p.Pro635fs
  • NP_001277058.2:p.Phe621fs
  • NP_001277059.2:p.Phe500fs
  • NP_060209.4:p.Phe643fs
  • LRG_701t1:c.1902del
  • LRG_701t2:c.1928del
  • LRG_701:g.35981del
  • LRG_701p1:p.Pro635fs
  • LRG_701p2:p.Phe643fs
  • NC_000001.10:g.46655000del
  • NM_017739.3:c.1928delT
Protein change:
F500fs
Links:
dbSNP: rs386834026
NCBI 1000 Genomes Browser:
rs386834026
Molecular consequence:
  • NM_001243766.2:c.1902del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290129.2:c.1862del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290130.2:c.1499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017739.4:c.1928del - 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
SCV000082418Juha 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

SCV000082418

Help

Summary from all submissions

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

Citations

PubMed

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T.

Hum Mol Genet. 2003 Mar 1;12(5):527-34.

PubMed [citation]
PMID:
12588800

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082418.1

#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