NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000119463.1

Allele description [Variation Report for NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)]

NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)

HGVS:

NC_000019.10:g.38564974_38564982del
NG_008866.1:g.136275_136283del
NM_000540.3:c.12640_12648delMANE SELECT
NM_001042723.2:c.12625_12633del
NP_000531.2:p.Arg4214_Phe4216del
NP_001036188.1:p.Arg4209_Phe4211del
LRG_766:g.136275_136283del
NC_000019.9:g.39055614_39055622del
p.(Arg4214_Phe4216del)

Links:

OMIM: 180901.0018; dbSNP: rs118192165

NCBI 1000 Genomes Browser:

rs118192165

Molecular consequence:

NM_000540.3:c.12640_12648del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042723.2:c.12625_12633del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV000154370	Leiden Muscular Dystrophy (RYR1)	no classification provided	not provided	unknown	not provided	PubMed (2) [See all records that cite these PMIDs] 17204937, 16958053

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000154370

Leiden Muscular Dystrophy (RYR1)

no classification provided

not provided

unknown

not provided

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	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.

Herasse M, Parain K, Marty I, Monnier N, Kaindl AM, Leroy JP, Richard P, Lunardi J, Romero NB, Ferreiro A.

J Neuropathol Exp Neurol. 2007 Jan;66(1):57-65.

PubMed [citation]

PMID:: 17204937

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

Lyfenko AD, Ducreux S, Wang Y, Xu L, Zorzato F, Ferreiro A, Meissner G, Treves S, Dirksen RT.

Hum Mutat. 2007 Jan;28(1):61-8.

PubMed [citation]

PMID:: 16958053

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154370.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2024

ClinVar

Relating variation to medicine