NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) AND Cardiomyopathy

Clinical significance:Benign/Likely benign (Last evaluated: Oct 16, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000777965.2

Allele description [Variation Report for NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)]

NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)

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.12705C>T (p.Phe4235=)
HGVS:
  • NC_000001.11:g.237784417C>T
  • NG_008799.2:g.747016C>T
  • NG_008799.3:g.747234C>T
  • NM_001035.3:c.12705C>TMANE SELECT
  • NP_001026.2:p.Phe4235=
  • LRG_402t1:c.12705C>T
  • LRG_402:g.747234C>T
  • LRG_402p1:p.Phe4235=
  • NC_000001.10:g.237947717C>T
  • NM_001035.2:c.12705C>T
  • c.12705C>T
  • p.Phe4235Phe
Links:
dbSNP: rs373606009
NCBI 1000 Genomes Browser:
rs373606009
Molecular consequence:
  • NM_001035.3:c.12705C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000914066Color Health, Inccriteria provided, single submitter
Benign
(Oct 16, 2018)
germlineclinical testing

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

SCV001333071CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontariocriteria provided, single submitter
Likely benign
(Dec 11, 2017)
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, SCV000914066.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario, SCV001333071.1

#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: Sep 10, 2021

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