NM_017739.4(POMGNT1):c.*404_*405dup AND Muscle eye brain disease

NM_017739.4(POMGNT1):c.404_405dup AND Muscle eye brain disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 4, 2017
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:: RCV000671225.1

Allele description [Variation Report for NM_017739.4(POMGNT1):c.404_405dup]

NM_017739.4(POMGNT1):c.404_405dup

Genes:

POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
TSPAN1:tetraspanin 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_017739.4(POMGNT1):c.*404_*405dup

HGVS:

NC_000001.11:g.46188865_46188866dup
NG_009205.2:g.36440_36441dup
NG_009205.3:g.36440_36441dup
NM_001243766.2:c.2100_2101dup
NM_001290129.2:c.*143_*144dup
NM_001290130.2:c.*143_*144dup
NM_017739.4:c.*404_*405dupMANE SELECT
NP_001230695.2:p.Ala701fs
LRG_701t1:c.2100_2101dup
LRG_701t2:c.*404_*405dup
LRG_701:g.36440_36441dup
LRG_701p1:p.Ala701fs
NC_000001.10:g.46654537_46654538dup
NM_017739.3:c.*404_*405dupGG

Protein change:

A701fs

Links:

dbSNP: rs940315351

NCBI 1000 Genomes Browser:

rs940315351

Molecular consequence:

NM_001290129.2:c.*143_*144dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001290130.2:c.*143_*144dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_017739.4:c.*404_*405dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001243766.2:c.2100_2101dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000796180	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 4, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796180

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Dec 4, 2017)

unknown

clinical testing

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	clinical testing

Details of each submission

From Counsyl, SCV000796180.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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: Dec 11, 2022

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