NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro) AND Central core myopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 6, 2018
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:: RCV000770989.2

Allele description [Variation Report for NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)]

NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)

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.7856T>C (p.Leu2619Pro)

HGVS:

NC_000019.10:g.38502900T>C
NG_008866.1:g.74201T>C
NM_000540.3:c.7856T>CMANE SELECT
NM_001042723.2:c.7856T>C
NP_000531.2:p.Leu2619Pro
NP_000531.2:p.Leu2619Pro
NP_001036188.1:p.Leu2619Pro
LRG_766t1:c.7856T>C
LRG_766:g.74201T>C
LRG_766p1:p.Leu2619Pro
NC_000019.9:g.38993540T>C
NM_000540.2:c.7856T>C
p.(Leu2619Pro)

Protein change:

L2619P

Links:

dbSNP: rs1263237391

NCBI 1000 Genomes Browser:

rs1263237391

Molecular consequence:

NM_000540.3:c.7856T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.7856T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Central core myopathy (CMYO1A)
Synonyms:: Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897980	Center of Genomic medicine, Geneva, University Hospital of Geneva	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 6, 2018)	de novo	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

SCV000897980

Center of Genomic medicine, Geneva, University Hospital of Geneva

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 6, 2018)

de novo

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000897980.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2024

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