NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn) AND Muscle eye brain disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 25, 2014
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:: RCV000169201.10

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)]

NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)

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.1649G>A (p.Ser550Asn)

HGVS:

NC_000001.11:g.46190473C>T
NG_009205.3:g.34833G>A
NM_001243766.2:c.1649G>A
NM_001290129.2:c.1583G>A
NM_001290130.2:c.1220G>A
NM_017739.4:c.1649G>AMANE SELECT
NP_001230695.2:p.Ser550Asn
NP_001277058.2:p.Ser528Asn
NP_001277059.2:p.Ser407Asn
NP_060209.3:p.Ser550Asn
NP_060209.4:p.Ser550Asn
LRG_701t1:c.1649G>A
LRG_701t2:c.1649G>A
LRG_701:g.34833G>A
LRG_701p1:p.Ser550Asn
LRG_701p2:p.Ser550Asn
NC_000001.10:g.46656145C>T
NG_009205.2:g.34833G>A
NM_017739.3:c.1649G>A
Q8WZA1:p.Ser550Asn

Protein change:

S407N; SER550ASN

Links:

UniProtKB: Q8WZA1#VAR_023109; OMIM: 606822.0003; dbSNP: rs193919335

NCBI 1000 Genomes Browser:

rs193919335

Molecular consequence:

NM_001243766.2:c.1649G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001290129.2:c.1583G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001290130.2:c.1220G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_017739.4:c.1649G>A - 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
SCV000220451	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jun 25, 2014)	unknown	literature only	PubMed (3) [See all records that cite these PMIDs] 12788071, 11709191, 12849864 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000220451

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jun 25, 2014)

unknown

literature only

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

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.

Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo T.

Biochem Biophys Res Commun. 2003 Jun 20;306(1):93-7.

PubMed [citation]

PMID:: 12788071

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T.

Dev Cell. 2001 Nov;1(5):717-24.

PubMed [citation]

PMID:: 11709191

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000220451.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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: Nov 10, 2024

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