U.S. flag

An official website of the United States government

NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) AND Ventricular fibrillation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 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:
RCV000202619.3

Allele description [Variation Report for NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)]

NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)

Gene:
RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
Other names:
p.R420W:CGG>TGG
HGVS:
  • NC_000001.11:g.237445488C>T
  • NG_008799.3:g.408305C>T
  • NM_001035.3:c.1258C>TMANE SELECT
  • NP_001026.2:p.Arg420Trp
  • LRG_402t1:c.1258C>T
  • LRG_402:g.408305C>T
  • LRG_402p1:p.Arg420Trp
  • NC_000001.10:g.237608788C>T
  • NG_008799.2:g.408087C>T
  • NM_001035.2:c.1258C>T
  • Q92736:p.Arg420Trp
Protein change:
R420W
Links:
UniProtKB: Q92736#VAR_044090; dbSNP: rs190140598
NCBI 1000 Genomes Browser:
rs190140598
Molecular consequence:
  • NM_001035.3:c.1258C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ventricular fibrillation
Identifiers:
EFO: EFO_0004287; MONDO: MONDO:0000190; MedGen: C0042510; Human Phenotype Ontology: HP:0001663

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
SCV000257560Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute - IDIOM
criteria provided, single submitter

(STSI_classification_crtieria_for_IDIOM)		Pathogenic
(Dec 15, 2015) 		de novoresearch

STSI_classification_crtieria_for_IDIOM.docx

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providedyesresearch

Details of each submission

From Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute - IDIOM, SCV000257560.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: May 7, 2024