NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) AND not specified

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Feb 26, 2021
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:: RCV000245786.13

Allele description [Variation Report for NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)]

NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)

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.7923C>G (p.Leu2641=)

HGVS:

NC_000019.10:g.38502967C>G
NG_008866.1:g.74268C>G
NM_000540.3:c.7923C>GMANE SELECT
NM_001042723.2:c.7923C>G
NP_000531.2:p.Leu2641=
NP_000531.2:p.Leu2641=
NP_001036188.1:p.Leu2641=
LRG_766t1:c.7923C>G
LRG_766:g.74268C>G
LRG_766p1:p.Leu2641=
NC_000019.9:g.38993607C>G
NM_000540.2:c.7923C>G

Links:

dbSNP: rs142558977

NCBI 1000 Genomes Browser:

rs142558977

Molecular consequence:

NM_000540.3:c.7923C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001042723.2:c.7923C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000305030	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001880065	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics criteria)	Benign (Feb 26, 2021)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20681998, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000305030

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

clinical testing

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

SCV001880065

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics criteria)

Benign
(Feb 26, 2021)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.

Tammaro A, Di Martino A, Bracco A, Cozzolino S, Savoia G, Andria B, Cannavo A, Spagnuolo M, Piluso G, Aurino S, Nigro V.

Clin Genet. 2011 May;79(5):438-47. doi: 10.1111/j.1399-0004.2010.01493.x.

PubMed [citation]

PMID:: 20681998

See all PubMed Citations (3)

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000305030.2

#	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

From Athena Diagnostics, SCV001880065.1

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

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

Last Updated: Oct 20, 2024

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