NM_001036.5(RYR3):c.4307A>C (p.Gln1436Pro) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000519323.1

Allele description [Variation Report for NM_001036.5(RYR3):c.4307A>C (p.Gln1436Pro)]

NM_001036.5(RYR3):c.4307A>C (p.Gln1436Pro)

Gene:
RYR3:ryanodine receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_001036.5(RYR3):c.4307A>C (p.Gln1436Pro)
HGVS:
  • NC_000015.10:g.33652882A>C
  • NG_047076.1:g.347100A>C
  • NM_001036.5:c.4307A>C
  • NM_001243996.3:c.4307A>C
  • NP_001027.3:p.Gln1436Pro
  • NP_001230925.1:p.Gln1436Pro
  • NC_000015.9:g.33945083A>C
  • NM_001036.3:c.4307A>C
Protein change:
Q1436P
Links:
dbSNP: rs765877934
NCBI 1000 Genomes Browser:
rs765877934
Molecular consequence:
  • NM_001036.5:c.4307A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243996.3:c.4307A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000621901GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000621901.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q1436P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q1436P variant is observed in 4/30,124 (0.01%) alleles from individuals of South Asian background (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 27, 2021

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