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NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (7 submissions)
Last evaluated:
Dec 22, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000119674.46

Allele description [Variation Report for NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)]

NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
Other names:
NM_000540.3(RYR1):c.7025A>G
HGVS:
  • NC_000019.10:g.38499241A>G
  • NG_008866.1:g.70542A>G
  • NM_000540.3:c.7025A>GMANE SELECT
  • NM_001042723.2:c.7025A>G
  • NP_000531.2:p.Asn2342Ser
  • NP_000531.2:p.Asn2342Ser
  • NP_001036188.1:p.Asn2342Ser
  • LRG_766t1:c.7025A>G
  • LRG_766:g.70542A>G
  • LRG_766p1:p.Asn2342Ser
  • NC_000019.9:g.38989881A>G
  • NM_000540.2:c.7025A>G
  • P21817:p.Asn2342Ser
  • p.(Asn2342Ser)
Protein change:
N2342S
Links:
UniProtKB: P21817#VAR_045716; dbSNP: rs147213895
NCBI 1000 Genomes Browser:
rs147213895
Molecular consequence:
  • NM_000540.3:c.7025A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7025A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
12

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000154581Leiden Muscular Dystrophy (RYR1)
no classification provided
not providedunknownnot provided

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

SCV000203455Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Mar 21, 2014)
germlineclinical testing

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

Citation Link,

SCV000565503GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Nov 30, 2021)
germlineclinical testing

Citation Link,

SCV000575173CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Uncertain significance
(May 1, 2022)
germlineclinical testing

Citation Link,

SCV000609897Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(May 12, 2017)
germlineclinical testing

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

SCV000852739PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Aug 12, 2016)
germlineclinical testing

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

SCV003815021Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Dec 22, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes10not providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Mutations in RYR1 in malignant hyperthermia and central core disease.

Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.

Hum Mutat. 2006 Oct;27(10):977-89. Review.

PubMed [citation]
PMID:
16917943

Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.

Marchant CL, Ellis FR, Halsall PJ, Hopkins PM, Robinson RL.

Muscle Nerve. 2004 Jul;30(1):114-7.

PubMed [citation]
PMID:
15221887
See all PubMed Citations (3)

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154581.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

From Eurofins Ntd Llc (ga), SCV000203455.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV000565503.6

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

Description

See Variant Classification Assertion Criteria.

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

From CeGaT Center for Human Genetics Tuebingen, SCV000575173.30

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided10not providednot providedclinical testingnot provided

Description

RYR1: PM2, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided10not providednot providednot provided

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000609897.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.002856not providednot provided

From PreventionGenetics, part of Exact Sciences, SCV000852739.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Revvity Omics, Revvity, SCV003815021.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024