U.S. flag

An official website of the United States government

NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 1, 2015
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:
RCV000226037.3

Allele description [Variation Report for NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)]

NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)

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.7244G>A (p.Arg2415Gln)
HGVS:
  • NC_000019.10:g.38499937G>A
  • NG_008866.1:g.71238G>A
  • NM_000540.3:c.7244G>AMANE SELECT
  • NM_001042723.2:c.7244G>A
  • NP_000531.2:p.Arg2415Gln
  • NP_000531.2:p.Arg2415Gln
  • NP_001036188.1:p.Arg2415Gln
  • LRG_766t1:c.7244G>A
  • LRG_766:g.71238G>A
  • LRG_766p1:p.Arg2415Gln
  • NC_000019.9:g.38990577G>A
  • NM_000540.2:c.7244G>A
Protein change:
R2415Q
Links:
dbSNP: rs201584482
NCBI 1000 Genomes Browser:
rs201584482
Molecular consequence:
  • NM_000540.3:c.7244G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7244G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000265813Center for Genetic Medicine Research, Children's National Medical Center
criteria provided, single submitter

(Punetha et al. (J Neuromuscul Dis. 2016))		Uncertain significance
(Dec 1, 2015) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PubMed [citation]
PMID:
27854218

Details of each submission

From Center for Genetic Medicine Research, Children's National Medical Center, SCV000265813.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024