NM_198576.4(AGRN):c.4922dup (p.Asn1641fs) AND Congenital myasthenic syndrome 8

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 4, 2021
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:: RCV002051720.11

Allele description [Variation Report for NM_198576.4(AGRN):c.4922dup (p.Asn1641fs)]

NM_198576.4(AGRN):c.4922dup (p.Asn1641fs)

Gene:

AGRN:agrin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p36.33

Genomic location:

Preferred name:

NM_198576.4(AGRN):c.4922dup (p.Asn1641fs)

HGVS:

NC_000001.11:g.1050275dup
NG_016346.1:g.35153dup
NM_001305275.2:c.4922dup
NM_001364727.2:c.4607dup
NM_198576.4:c.4922dupMANE SELECT
NP_001292204.1:p.Asn1641fs
NP_001351656.1:p.Asn1536fs
NP_940978.2:p.Asn1641fs
LRG_198:g.35153dup
NC_000001.10:g.985655dup
NM_198576.4:c.4922dupAMANE SELECT

Protein change:

N1536fs

Links:

dbSNP: rs2100682020

NCBI 1000 Genomes Browser:

rs2100682020

Molecular consequence:

NM_001305275.2:c.4922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001364727.2:c.4607dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198576.4:c.4922dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Congenital myasthenic syndrome 8
Synonyms:: MYASTHENIC SYNDROME, CONGENITAL, DUE TO AGRIN DEFICIENCY; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
Identifiers:: MONDO: MONDO:0014052; MedGen: C3808739; Orphanet: 590; OMIM: 615120

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001746609	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 4, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001746609

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 4, 2021)

germline

clinical testing

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	clinical testing

Citations

PubMed

Preconsultation exchange in the United States: use, awareness, and attitudes.

Sewell JL, Telischak KS, Day LW, Kirschner N, Weissman A.

Am J Manag Care. 2014 Dec 1;20(12):e556-64.

PubMed [citation]

PMID:: 25741872

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV001746609.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Oct 20, 2024

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