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NM_001035.3(RYR2):c.3225C>T (p.Ala1075=) AND not specified

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jun 7, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000156712.16

Allele description [Variation Report for NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)]

NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)

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.3225C>T (p.Ala1075=)
HGVS:
  • NC_000001.11:g.237566577C>T
  • NG_008799.3:g.529394C>T
  • NM_001035.3:c.3225C>TMANE SELECT
  • NP_001026.2:p.Ala1075=
  • LRG_402t1:c.3225C>T
  • LRG_402:g.529394C>T
  • LRG_402p1:p.Ala1075=
  • NC_000001.10:g.237729877C>T
  • NG_008799.2:g.529176C>T
  • NM_001035.2:c.3225C>T
  • p.Ala1075Ala
Links:
dbSNP: rs727505215
NCBI 1000 Genomes Browser:
rs727505215
Molecular consequence:
  • NM_001035.3:c.3225C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206433Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Jul 24, 2014) 		germlineclinical testing

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

SCV000514438GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Benign
(Jun 7, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000206433.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

p.Ala1075Ala in exon 28 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

From GeneDx, SCV000514438.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Oct 20, 2024