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NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2016
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:
RCV000622827.2

Allele description [Variation Report for NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp)]

NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp)

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.14203C>T (p.Arg4735Trp)
HGVS:
  • NC_000019.10:g.38577948C>T
  • NG_008866.1:g.149249C>T
  • NM_000540.3:c.14203C>TMANE SELECT
  • NM_001042723.2:c.14188C>T
  • NP_000531.2:p.Arg4735Trp
  • NP_000531.2:p.Arg4735Trp
  • NP_001036188.1:p.Arg4730Trp
  • LRG_766t1:c.14203C>T
  • LRG_766:g.149249C>T
  • LRG_766p1:p.Arg4735Trp
  • NC_000019.9:g.39068588C>T
  • NM_000540.2:c.14203C>T
Protein change:
R4730W
Links:
dbSNP: rs766887342
NCBI 1000 Genomes Browser:
rs766887342
Molecular consequence:
  • NM_000540.3:c.14203C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.14188C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741435Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Uncertain significance
(Apr 7, 2016) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Klingler W, Heiderich S, Girard T, Gravino E, Heffron JJ, Johannsen S, Jurkat-Rott K, Rüffert H, Schuster F, Snoeck M, Sorrentino V, Tegazzin V, Lehmann-Horn F.

Orphanet J Rare Dis. 2014 Jan 16;9:8. doi: 10.1186/1750-1172-9-8.

PubMed [citation]
PMID:
24433488
PMCID:
PMC3896768

Details of each submission

From Ambry Genetics, SCV000741435.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024