NM_017739.4(POMGNT1):c.1905del (p.Lys635fs) AND Muscle eye brain disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 20, 2018
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:: RCV000672861.1

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)]

NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)

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.1905del (p.Lys635fs)

HGVS:

NC_000001.11:g.46189348del
NG_009205.2:g.35958del
NG_009205.3:g.35958del
NM_001243766.2:c.1879del
NM_001290129.2:c.1839del
NM_001290130.2:c.1476del
NM_017739.4:c.1905delMANE SELECT
NP_001230695.2:p.Ala627fs
NP_001277058.2:p.Lys613fs
NP_001277059.2:p.Lys492fs
NP_060209.4:p.Lys635fs
LRG_701t1:c.1879del
LRG_701t2:c.1905del
LRG_701:g.35958del
LRG_701p1:p.Ala627fs
LRG_701p2:p.Lys635fs
NC_000001.10:g.46655020del
NM_017739.3:c.1905delG

Protein change:

A627fs

Links:

dbSNP: rs1553162601

NCBI 1000 Genomes Browser:

rs1553162601

Molecular consequence:

NM_001243766.2:c.1879del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001290129.2:c.1839del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001290130.2:c.1476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017739.4:c.1905del - 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
SCV000798009	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Feb 20, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000798009

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Feb 20, 2018)

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, SCV000798009.1

#	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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