NM_198576.4(AGRN):c.226G>A (p.Gly76Ser) AND Congenital myasthenic syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000235037.10

Allele description [Variation Report for NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)]

NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)

Genes:

LOC126805576:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:956772-957971 [Gene]
AGRN:agrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

Preferred name:

NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)

HGVS:

NC_000001.11:g.1022225G>A
NG_016346.1:g.7103G>A
NM_001305275.2:c.226G>A
NM_198576.4:c.226G>AMANE SELECT
NP_001292204.1:p.Gly76Ser
NP_940978.2:p.Gly76Ser
LRG_198:g.7103G>A
NC_000001.10:g.957605G>A
NM_198576.3:c.226G>A

Protein change:

G76S

Links:

dbSNP: rs756623659

NCBI 1000 Genomes Browser:

rs756623659

Molecular consequence:

NM_001305275.2:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198576.4:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital myasthenic syndrome (CMS)
Identifiers:: MONDO: MONDO:0018940; MeSH: D020294; MedGen: C0751882; OMIM: PS601462

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292405	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292405

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, et al.

Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20.

PubMed [citation]

PMID:: 24951643

Details of each submission

From GeneReviews, SCV000292405.2

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

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

Last Updated: Nov 24, 2024

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