NM_000540.2(RYR1):c.5637C>T (p.Asp1879=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: May 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000079153.8

Allele description [Variation Report for NM_000540.2(RYR1):c.5637C>T (p.Asp1879=)]

NM_000540.2(RYR1):c.5637C>T (p.Asp1879=)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.2(RYR1):c.5637C>T (p.Asp1879=)
HGVS:
  • NC_000019.10:g.38489266C>T
  • NG_008866.1:g.60567C>T
  • NM_000540.2:c.5637C>T
  • NM_001042723.2:c.5637C>T
  • NP_000531.2:p.Asp1879=
  • NP_001036188.1:p.Asp1879=
  • LRG_766t1:c.5637C>T
  • LRG_766:g.60567C>T
  • LRG_766p1:p.Asp1879=
  • NC_000019.9:g.38979906C>T
  • NP_000531.2:p.(=)
Links:
dbSNP: rs143418190
NCBI 1000 Genomes Browser:
rs143418190
Molecular consequence:
  • NM_000540.2:c.5637C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042723.2:c.5637C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000111022EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Oct 17, 2013)
germlineclinical testing

Citation Link,

SCV001151849CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(May 1, 2019)
germlineclinical testing

Citation Link,

SCV001804858GeneDxno assertion criteria provided
Likely benign
(Mar 8, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000111022.8

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001151849.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV001804858.1

#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: Aug 21, 2021

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