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NM_001035.3(RYR2):c.463+6C>T AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 2012
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:
RCV000036749.5

Allele description [Variation Report for NM_001035.3(RYR2):c.463+6C>T]

NM_001035.3(RYR2):c.463+6C>T

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.463+6C>T
HGVS:
  • NC_000001.11:g.237374801C>T
  • NG_008799.3:g.337618C>T
  • NM_001035.3:c.463+6C>TMANE SELECT
  • LRG_402t1:c.463+6C>T
  • LRG_402:g.337618C>T
  • NC_000001.10:g.237538101C>T
  • NG_008799.2:g.337400C>T
  • NM_001035.2:c.463+6C>T
  • c.463+6C>T
Links:
dbSNP: rs397516533
NCBI 1000 Genomes Browser:
rs397516533
Molecular consequence:
  • NM_001035.3:c.463+6C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000060404Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Aug 14, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060404.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The 463+6C>T varian t in RYR2 has not been reported in the literature nor previously identified by o ur laboratory. This variant is located in the 5' splice region. Computational to ols do not suggest an impact to splicing, although this information is not predi ctive enough to rule out pathogenicity. Additional information is needed to full y assess the clinical significance of this variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Nov 24, 2024