NM_000540.2(RYR1):c.3108C>A (p.Asp1036Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 20, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000298410.3

Allele description [Variation Report for NM_000540.2(RYR1):c.3108C>A (p.Asp1036Glu)]

NM_000540.2(RYR1):c.3108C>A (p.Asp1036Glu)

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.3108C>A (p.Asp1036Glu)
HGVS:
  • NC_000019.10:g.38466328C>A
  • NG_008866.1:g.37629C>A
  • NM_000540.2:c.3108C>A
  • NM_001042723.2:c.3108C>A
  • NP_000531.2:p.Asp1036Glu
  • NP_001036188.1:p.Asp1036Glu
  • LRG_766t1:c.3108C>A
  • LRG_766:g.37629C>A
  • LRG_766p1:p.Asp1036Glu
  • NC_000019.9:g.38956968C>A
Protein change:
D1036E
Links:
dbSNP: rs759317223
NCBI 1000 Genomes Browser:
rs759317223
Molecular consequence:
  • NM_000540.2:c.3108C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.3108C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000336690EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Oct 20, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000336690.4

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

Last Updated: May 23, 2021

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