NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr) AND RYR1-related disorder

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Aug 18, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001465780.8

Allele description [Variation Report for NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr)]

NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr)

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.14257G>A (p.Ala4753Thr)

HGVS:

NC_000019.10:g.38578002G>A
NG_008866.1:g.149303G>A
NM_000540.3:c.14257G>AMANE SELECT
NM_001042723.2:c.14242G>A
NP_000531.2:p.Ala4753Thr
NP_000531.2:p.Ala4753Thr
NP_001036188.1:p.Ala4748Thr
LRG_766t1:c.14257G>A
LRG_766:g.149303G>A
LRG_766p1:p.Ala4753Thr
NC_000019.9:g.39068642G>A
NM_000540.2:c.14257G>A

Protein change:

A4748T

Links:

dbSNP: rs138156449

NCBI 1000 Genomes Browser:

rs138156449

Molecular consequence:

NM_000540.3:c.14257G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.14242G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: RYR1-related disorder
Synonyms:: RYR1-Related Disorders; RYR1-related condition
Identifiers:: MedGen: CN239331

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000852399	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Jun 27, 2022)	germline	clinical testing
SCV001669775	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Aug 18, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000852399

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Jun 27, 2022)

germline

clinical testing

SCV001669775

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Aug 18, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000852399.3

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001669775.3

#	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 10, 2024

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