NM_004287.5(GOSR2):c.336+1G>A AND Muscular dystrophy, congenital, with or without seizures

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 22, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002478670.8

Allele description [Variation Report for NM_004287.5(GOSR2):c.336+1G>A]

NM_004287.5(GOSR2):c.336+1G>A

Genes:

GOSR2:golgi SNAP receptor complex member 2 [Gene - OMIM - HGNC]
LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.32

Genomic location:

Preferred name:

NM_004287.5(GOSR2):c.336+1G>A

HGVS:

NC_000017.11:g.46932200G>A
NG_031806.2:g.14081G>A
NG_031806.3:g.14042G>A
NG_087075.1:g.1323G>A
NM_001012511.3:c.336+1G>A
NM_001321133.2:c.336+1G>A
NM_001321134.2:c.282+1G>A
NM_001330252.2:c.336+1G>A
NM_001353114.2:c.333+1G>A
NM_001353115.2:c.333+1G>A
NM_001353116.2:c.333+1G>A
NM_001363851.2:c.282+1G>A
NM_004287.5:c.336+1G>AMANE SELECT
NM_054022.4:c.336+1G>A
NC_000017.10:g.45009566G>A
NM_004287.3:c.336+1G>A
NM_004287.4:c.336+1G>A

Nucleotide change:

IVSDS, G-A, +1

Links:

OMIM: 604027.0003; dbSNP: rs141554661

NCBI 1000 Genomes Browser:

rs141554661

Molecular consequence:

NM_001012511.3:c.336+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321133.2:c.336+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321134.2:c.282+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001330252.2:c.336+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001353114.2:c.333+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001353115.2:c.333+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001353116.2:c.333+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001363851.2:c.282+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004287.5:c.336+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_054022.4:c.336+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Muscular dystrophy, congenital, with or without seizures (MYOS)
Identifiers:: MONDO: MONDO:0859336; MedGen: C5774274; OMIM: 620166

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002769715	OMIM	no assertion criteria provided	Pathogenic (Dec 22, 2022)	germline	literature only	Tsai, L., Schwake, M., Corbett, M. A., Gecz, J., Berkovic, Shieh, P. B. GOSR 2: a novel form of congenital muscular dystrophy. (Abstract) Neuromusc. Disord. 23: 748-only, 2013.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002769715

OMIM

no assertion criteria provided

Pathogenic
(Dec 22, 2022)

germline

literature only

Tsai, L., Schwake, M., Corbett, M. A., Gecz, J., Berkovic, Shieh, P. B. GOSR 2: a novel form of congenital muscular dystrophy. (Abstract) Neuromusc. Disord. 23: 748-only, 2013.

Help

Summary from all submissions

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

Details of each submission

From OMIM, SCV002769715.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

In a 36-month-old boy with congenital muscular dystrophy with seizures (MYOS; 620166), Tsai et al. (2013) identified compound heterozygous mutations in the GOSR2 gene: a splice site mutation (c.336+1G-A) and G144W (604027.0001). The mutations were found by whole-exome sequencing; functional studies of the variants were not performed.

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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine