NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 16, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000724635.4

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]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000233207EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 16, 2015)
germlineclinical testing

Citation Link,

SCV001842849GeneDxno assertion criteria provided
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000233207.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001842849.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 10, 2021

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