NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser) AND Muscle eye brain disease

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Aug 31, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000049990.2

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)]

NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)

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_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)

Other names:

NM_017739.4(POMGNT1):c.1274G>C

HGVS:

NC_000001.11:g.46192528C>G
NG_009205.3:g.32778G>C
NM_001243766.2:c.1274G>C
NM_001290129.2:c.1208G>C
NM_001290130.2:c.845G>C
NM_017739.4:c.1274G>CMANE SELECT
NP_001230695.2:p.Trp425Ser
NP_001277058.2:p.Trp403Ser
NP_001277059.2:p.Trp282Ser
NP_060209.3:p.Trp425Ser
NP_060209.4:p.Trp425Ser
LRG_701t1:c.1274G>C
LRG_701t2:c.1274G>C
LRG_701:g.32778G>C
LRG_701p1:p.Trp425Ser
LRG_701p2:p.Trp425Ser
NC_000001.10:g.46658200C>G
NG_009205.2:g.32778G>C
NM_017739.3:c.1274G>C
Q8WZA1:p.Trp425Ser

Protein change:

W282S

Links:

UniProtKB: Q8WZA1#VAR_023105; dbSNP: rs386834011

NCBI 1000 Genomes Browser:

rs386834011

Molecular consequence:

NM_001243766.2:c.1274G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001290129.2:c.1208G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001290130.2:c.845G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_017739.4:c.1274G>C - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000082399	Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	no assertion criteria provided	probable-pathogenic	not provided	not provided	PubMed (1) [See all records that cite this PMID]
SCV000486886	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Aug 31, 2016)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23453855, 15466003, 21361872 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000082399

Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

no assertion criteria provided

probable-pathogenic

not provided

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

SCV000486886

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Aug 31, 2016)

unknown

clinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference: SCV000082399

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology.

Lim BC, Lee S, Shin JY, Hwang H, Kim KJ, Hwang YS, Seo JS, Kim JI, Chae JH.

Neuromuscul Disord. 2013 Apr;23(4):337-44. doi: 10.1016/j.nmd.2013.01.007. Epub 2013 Mar 1.

PubMed [citation]

PMID:: 23453855

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE.

J Med Genet. 2004 Oct;41(10):e115. No abstract available.

PubMed [citation]

PMID:: 15466003
PMCID:: PMC1735594

See all PubMed Citations (3)

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082399.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Counsyl, SCV000486886.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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