NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe) AND Congenital multicore myopathy with external ophthalmoplegia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 27, 2005
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:: RCV000013863.27

Allele description [Variation Report for NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)]

NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)

Gene:

RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)

Other names:

S3450F

HGVS:

NC_000019.10:g.38523111C>T
NG_008866.1:g.94412C>T
NM_000540.3:c.10343C>TMANE SELECT
NM_001042723.2:c.10343C>T
NP_000531.2:p.Ser3448Phe
NP_000531.2:p.Ser3448Phe
NP_001036188.1:p.Ser3448Phe
LRG_766t1:c.10343C>T
LRG_766:g.94412C>T
LRG_766p1:p.Ser3448Phe
NC_000019.9:g.39013751C>T
NM_000540.2:c.10343C>T

Protein change:

S3448F; SER3450PHE

Links:

OMIM: 180901.0029; dbSNP: rs193922836

NCBI 1000 Genomes Browser:

rs193922836

Molecular consequence:

NM_000540.3:c.10343C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.10343C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital multicore myopathy with external ophthalmoplegia (CMYO1B)
Synonyms:: MULTICORE MYOPATHY; Minicore myopathy with external ophthalmoplegia; Multicore myopathy with external ophthalmoplegia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009712; MedGen: C1850674; Orphanet: 598; OMIM: 255320; Human Phenotype Ontology: HP:0003789

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034110	OMIM	no assertion criteria provided	Pathogenic (Dec 27, 2005)	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

SCV000034110

OMIM

no assertion criteria provided

Pathogenic
(Dec 27, 2005)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F.

Neurology. 2005 Dec 27;65(12):1930-5.

PubMed [citation]

PMID:: 16380615

Details of each submission

From OMIM, SCV000034110.5

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

Description

For discussion of the ser3450-to-phe (S3450F) mutation in the RYR1 gene that was found in 2 sibs with congenital myopathy-1B (CMYO1B; 255320) by Jungbluth et al. (2005), see 180901.0028.

#	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: Jul 29, 2024

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