NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 26, 2019
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:: RCV000119680.6

Allele description [Variation Report for NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly)]

NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly)

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.7043A>G (p.Glu2348Gly)

Other names:

NM_000540.2(RYR1):c.7043A>G

HGVS:

NC_000019.10:g.38499650A>G
NG_008866.1:g.70951A>G
NM_000540.3:c.7043A>GMANE SELECT
NM_001042723.2:c.7043A>G
NP_000531.2:p.Glu2348Gly
NP_000531.2:p.Glu2348Gly
NP_001036188.1:p.Glu2348Gly
LRG_766t1:c.7043A>G
LRG_766:g.70951A>G
LRG_766p1:p.Glu2348Gly
NC_000019.9:g.38990290A>G
NM_000540.2:c.7043A>G
P21817:p.Glu2348Gly
p.(Glu2348Gly)

Protein change:

E2348G

Links:

UniProtKB: P21817#VAR_045720; dbSNP: rs193922801

NCBI 1000 Genomes Browser:

rs193922801

Molecular consequence:

NM_000540.3:c.7043A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.7043A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000154587	Leiden Muscular Dystrophy (RYR1)	no classification provided	not provided	unknown	not provided	PubMed (1) [See all records that cite this PMID]
SCV003813103	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 26, 2019)	germline	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

SCV000154587

Leiden Muscular Dystrophy (RYR1)

no classification provided

not provided

unknown

not provided

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

SCV003813103

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 26, 2019)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.

Shepherd S, Ellis F, Halsall J, Hopkins P, Robinson R.

J Med Genet. 2004 Mar;41(3):e33. No abstract available.

PubMed [citation]

PMID:: 14985404
PMCID:: PMC1735714

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 Leiden Muscular Dystrophy (RYR1), SCV000154587.1

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

#	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

From Revvity Omics, Revvity, SCV003813103.2

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

Last Updated: Mar 30, 2024

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