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NM_001035.3(RYR2):c.8130-5C>T AND Cardiomyopathy

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 13, 2018
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:
RCV001177709.10

Allele description [Variation Report for NM_001035.3(RYR2):c.8130-5C>T]

NM_001035.3(RYR2):c.8130-5C>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.8130-5C>T
HGVS:
  • NC_000001.11:g.237657939C>T
  • NG_008799.3:g.620756C>T
  • NM_001035.3:c.8130-5C>TMANE SELECT
  • LRG_402t1:c.8130-5C>T
  • LRG_402:g.620756C>T
  • NC_000001.10:g.237821239C>T
  • NC_000001.10:g.237821239C>T
  • NG_008799.2:g.620538C>T
Links:
dbSNP: rs1683411935
NCBI 1000 Genomes Browser:
rs1683411935
Molecular consequence:
  • NM_001035.3:c.8130-5C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

Recent activity

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  • Mus musculus sorbin and SH3 domain containing 3 (Sorbs3), transcript variant 2, ...
    Mus musculus sorbin and SH3 domain containing 3 (Sorbs3), transcript variant 2, mRNA
    gi|2587328251|ref|NM_001271407.2|
    Nucleotide
  • Oncostatin M Receptor beta Subunit
    Oncostatin M Receptor beta Subunit
    An ONCOSTATIN M-specific receptor subunit that combines with CYTOKINE RECEPTOR GP130 to form the ONCOSTATIN M TYPE II RECEPTOR.<br/>Year introduced: 2007(2003)
    MeSH
  • Receptors, OSM-LIF
    Receptors, OSM-LIF
    Cell surface receptors formed from the dimerization of LIF RECEPTOR ALPHA SUBUNIT with CYTOKINE RECEPTOR GP130. Although originally described as receptors for LEUKEMIA INHIBIT...<br/>Year introduced: 2007(1991)
    MeSH
  • Heterogeneous-Nuclear Ribonucleoprotein Group M
    Heterogeneous-Nuclear Ribonucleoprotein Group M
    A group of closely-related 72-74-kDa heterogeneous-nuclear ribonucleoproteins that are involved in RNA SPLICING events.<br/>Year introduced: 2003
    MeSH
  • Apolipoproteins M
    Apolipoproteins M
    Apolipoproteins and lipocalins that occur in HIGH-DENSITY LIPOPROTEINS. They bind or transport lipids in the blood including sphingosine-1-phosphate, MYRISTIC ACID; STEARIC AC...<br/>Year introduced: 2018
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001341971Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Nov 13, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001341971.1

#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: Nov 3, 2024