NM_017739.4(POMGNT1):c.1284+2_1284+19del AND Muscle eye brain disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 14, 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:: RCV000411800.2

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1284+2_1284+19del]

NM_017739.4(POMGNT1):c.1284+2_1284+19del

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.1284+2_1284+19del

HGVS:

NC_000001.11:g.46192513_46192530del
NG_009205.3:g.32790_32807del
NM_001243766.2:c.1284+2_1284+19del
NM_001290129.2:c.1218+2_1218+19del
NM_001290130.2:c.855+2_855+19del
NM_017739.4:c.1284+2_1284+19delMANE SELECT
LRG_701t1:c.1284+2_1284+19del
LRG_701t2:c.1284+2_1284+19del
LRG_701:g.32790_32807del
NC_000001.10:g.46658171_46658188del
NC_000001.10:g.46658185_46658202del
NG_009205.2:g.32790_32807del
NM_017739.3:c.1284+2_1284+19del18

Links:

dbSNP: rs1057516409

NCBI 1000 Genomes Browser:

rs1057516409

Molecular consequence:

NM_001243766.2:c.1284+2_1284+19del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001290129.2:c.1218+2_1218+19del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001290130.2:c.855+2_855+19del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_017739.4:c.1284+2_1284+19del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000485619	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jan 14, 2016)	unknown	clinical testing	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

SCV000485619

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jan 14, 2016)

unknown

clinical testing

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

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, SCV000485619.2

#	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: Sep 29, 2024

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