NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) AND Neuromuscular disease, congenital, with uniform type 1 fiber

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000293888.6

Allele description [Variation Report for NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)]

NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)

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.14270G>A (p.Arg4757His)

HGVS:

NC_000019.10:g.38578015G>A
NG_008866.1:g.149316G>A
NM_000540.3:c.14270G>AMANE SELECT
NM_001042723.2:c.14255G>A
NP_000531.2:p.Arg4757His
NP_000531.2:p.Arg4757His
NP_001036188.1:p.Arg4752His
LRG_766t1:c.14270G>A
LRG_766:g.149316G>A
LRG_766p1:p.Arg4757His
NC_000019.9:g.39068655G>A
NM_000540.2(RYR1):c.14270G>A
NM_000540.2:c.14270G>A
p.Arg4757His

Protein change:

R4752H

Links:

dbSNP: rs768360593

NCBI 1000 Genomes Browser:

rs768360593

Molecular consequence:

NM_000540.3:c.14270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.14255G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neuromuscular disease, congenital, with uniform type 1 fiber
Identifiers:: MedGen: C2674259

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000413016	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000413016

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000413016.2

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

#	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: Jan 13, 2025

ClinVar

Relating variation to medicine