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NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Oct 25, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000119681.15

Allele description [Variation Report for NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)]

NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)

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.7048G>A (p.Ala2350Thr)
Other names:
NM_000540.3(RYR1):c.7048G>A
HGVS:
  • NC_000019.10:g.38499655G>A
  • NG_008866.1:g.70956G>A
  • NM_000540.3:c.7048G>AMANE SELECT
  • NM_001042723.2:c.7048G>A
  • NP_000531.2:p.Ala2350Thr
  • NP_000531.2:p.Ala2350Thr
  • NP_001036188.1:p.Ala2350Thr
  • LRG_766t1:c.7048G>A
  • LRG_766:g.70956G>A
  • LRG_766p1:p.Ala2350Thr
  • NC_000019.9:g.38990295G>A
  • NM_000540.2:c.7048G>A
  • P21817:p.Ala2350Thr
  • p.(Ala2350Thr)
Protein change:
A2350T
Links:
PharmGKB: 1445400232PA164749136; PharmGKB: 1445400232PA449461; PharmGKB: 1445400232PA449845; PharmGKB: 1445400232PA450106; PharmGKB: 1445400232PA450434; PharmGKB: 1445400232PA451341; PharmGKB: 1445400232PA451522; UniProtKB: P21817#VAR_045721; dbSNP: rs193922802
NCBI 1000 Genomes Browser:
rs193922802
Molecular consequence:
  • NM_000540.3:c.7048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7048G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000154588Leiden Muscular Dystrophy (RYR1)
no classification provided
not providedunknownnot provided

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

SCV000852747PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Aug 29, 2016)
germlineclinical testing

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

SCV004238127Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Oct 25, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

[Current aspects of the diagnosis of malignant hyperthermia].

Rüffert H, Olthoff D, Deutrich C, Froster UG.

Anaesthesist. 2002 Nov;51(11):904-13. Review. German.

PubMed [citation]
PMID:
12434264

Mutations in RYR1 in malignant hyperthermia and central core disease.

Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.

Hum Mutat. 2006 Oct;27(10):977-89. Review.

PubMed [citation]
PMID:
16917943
See all PubMed Citations (3)

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154588.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

From PreventionGenetics, part of Exact Sciences, SCV000852747.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Revvity Omics, Revvity, SCV004238127.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024