NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) AND Central core myopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2017
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:: RCV000680086.2

Allele description [Variation Report for NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)]

NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)

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.208C>T (p.Gln70Ter)

HGVS:

NC_000019.10:g.38442391C>T
NG_008866.1:g.13692C>T
NM_000540.3:c.208C>TMANE SELECT
NM_001042723.2:c.208C>T
NP_000531.2:p.Gln70Ter
NP_000531.2:p.Gln70Ter
NP_001036188.1:p.Gln70Ter
LRG_766t1:c.208C>T
LRG_766:g.13692C>T
LRG_766p1:p.Gln70Ter
NC_000019.9:g.38933031C>T
NM_000540.2:c.208C>T
NM_000540.3:c.208C>T

Protein change:

Q70*

Links:

dbSNP: rs1456276440

NCBI 1000 Genomes Browser:

rs1456276440

Molecular consequence:

NM_000540.3:c.208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001042723.2:c.208C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000807526	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 1, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 25326635

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000807526

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 1, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

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

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, et al.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

PubMed [citation]

PMID:: 25326635
PMCID:: PMC4326249

Details of each submission

From Baylor Genetics, SCV000807526.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (2)

Description

This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a missense variant in a 5-year-old female with global delays, hypertonia, seizure, delayed myelination, mild scoliosis, elevated CK

#	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	(GTR000508680.4)	not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine