NM_005055.5(RAPSN):c.-210A>G AND Congenital myasthenic syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 16, 2020
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:: RCV000235034.3

Allele description [Variation Report for NM_005055.5(RAPSN):c.-210A>G]

NM_005055.5(RAPSN):c.-210A>G

Gene:

RAPSN:receptor associated protein of the synapse [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_005055.5(RAPSN):c.-210A>G

Other names:

-38A>G

HGVS:

NC_000011.10:g.47449174T>C
NG_008312.2:g.4962A>G
NM_005055.5:c.-210A>GMANE SELECT
NC_000011.9:g.47470726T>C
NG_008312.1:g.5005A>G
NM_005055.4:c.-210A>G

Note:

NCBI staff reviewed the sequence information reported in PubMed 12651869 Fig. 4B to determine the location of this allele on the current reference sequence.

Nucleotide change:

-38A-G

Links:

OMIM: 601592.0006; dbSNP: rs786200905

NCBI 1000 Genomes Browser:

rs786200905

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
SCV000292402	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001460227	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292402

GeneReviews

no classification provided

not provided

germline

literature only

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

SCV001460227

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.

Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG.

Hum Mol Genet. 2003 Apr 1;12(7):739-48.

PubMed [citation]

PMID:: 12651869

Details of each submission

From GeneReviews, SCV000292402.3

#	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

From Natera, Inc., SCV001460227.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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