NM_001035.3(RYR2):c.8209-3A>G AND Cardiomyopathy

Clinical significance:Likely benign (Last evaluated: Sep 23, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001175859.1

Allele description [Variation Report for NM_001035.3(RYR2):c.8209-3A>G]

NM_001035.3(RYR2):c.8209-3A>G

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.8209-3A>G
HGVS:
  • NC_000001.11:g.237659982A>G
  • NG_008799.2:g.622581A>G
  • NG_008799.3:g.622799A>G
  • NM_001035.3:c.8209-3A>GMANE SELECT
  • LRG_402t1:c.8209-3A>G
  • LRG_402:g.622799A>G
  • NC_000001.10:g.237823282A>G
  • NM_001035.2:c.8209-3A>G
  • c.8209-3A>G
Links:
dbSNP: rs376788358
NCBI 1000 Genomes Browser:
rs376788358
Molecular consequence:
  • NM_001035.3:c.8209-3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001339638Color Health, Inccriteria provided, single submitter
Likely benign
(Sep 23, 2019)
germlineclinical testing

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

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 Health, Inc, SCV001339638.1

#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: Jul 7, 2021

Support Center