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

Germline classification:: Conflicting interpretations of pathogenicity (6 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:: RCV000119674.48

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:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Homo sapiens chromosome 2 open reading frame 80 (C2orf80), transcript...
PREDICTED: Homo sapiens chromosome 2 open reading frame 80 (C2orf80), transcript variant X3, mRNA
gi|2217327855|ref|XM_047444268.1|

Nucleotide
uncharacterized protein C2orf80 isoform X4 [Homo sapiens]
uncharacterized protein C2orf80 isoform X4 [Homo sapiens]
gi|2462573107|ref|XP_054197952.1|

Protein
Homo sapiens immunoglobulin kappa locus, mRNA (cDNA clone MGC:40426 IMAGE:517808...
Homo sapiens immunoglobulin kappa locus, mRNA (cDNA clone MGC:40426 IMAGE:5178085), complete cds
gi|21619605|gb|BC032451.1|

Nucleotide
Homo sapiens clone m66VL 2F5-like anti-HIV immunoglobulin light chain variable r...
Homo sapiens clone m66VL 2F5-like anti-HIV immunoglobulin light chain variable region mRNA, partial cds
gi|526241731|gb|JN252503.2|

Nucleotide
H.sapiens mRNA for anti-Sm antibody VL chain (V kappa 3/J kappa 2)
H.sapiens mRNA for anti-Sm antibody VL chain (V kappa 3/J kappa 2)
gi|560843|emb|Z46345.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000154581	Leiden Muscular Dystrophy (RYR1)	no classification provided	not provided	unknown	not provided	PubMed (1) [See all records that cite this PMID]
SCV000203455	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Mar 21, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000565503	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Nov 30, 2021)	germline	clinical testing	Citation Link,
SCV000575173	CeGaT 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)	germline	clinical testing	Citation Link,
SCV000609897	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 12, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003815021	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 22, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	10	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000203455.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From GeneDx, SCV000565503.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

See Variant Classification Assertion Criteria.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV000575173.32

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	not provided	not provided	clinical testing	not provided

Description

RYR1: PM2, PP3

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		10	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.002856	not provided	not provided

From Revvity Omics, Revvity, SCV003815021.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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