NM_000540.3(RYR1):c.7876C>G (p.Leu2626Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 10, 2018
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:: RCV001267117.2

Allele description [Variation Report for NM_000540.3(RYR1):c.7876C>G (p.Leu2626Val)]

NM_000540.3(RYR1):c.7876C>G (p.Leu2626Val)

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.7876C>G (p.Leu2626Val)

HGVS:

NC_000019.10:g.38502920C>G
NG_008866.1:g.74221C>G
NM_000540.3:c.7876C>GMANE SELECT
NM_001042723.2:c.7876C>G
NP_000531.2:p.Leu2626Val
NP_001036188.1:p.Leu2626Val
LRG_766t1:c.7876C>G
LRG_766:g.74221C>G
NC_000019.9:g.38993560C>G
NM_000540.2:c.7876C>G

Protein change:

L2626V

Links:

dbSNP: rs145446438

NCBI 1000 Genomes Browser:

rs145446438

Molecular consequence:

NM_000540.3:c.7876C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.7876C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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
SCV001445298	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Uncertain significance (Aug 10, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24013571, 16835904 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445298

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Uncertain significance
(Aug 10, 2018)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.

Kim JH, Jarvik GP, Browning BL, Rajagopalan R, Gordon AS, Rieder MJ, Robertson PD, Nickerson DA, Fisher NA, Hopkins PM.

Anesthesiology. 2013 Nov;119(5):1054-65. doi: 10.1097/ALN.0b013e3182a8a998.

PubMed [citation]

PMID:: 24013571
PMCID:: PMC4115638

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Galli L, Orrico A, Lorenzini S, Censini S, Falciani M, Covacci A, Tegazzin V, Sorrentino V.

Hum Mutat. 2006 Aug;27(8):830.

PubMed [citation]

PMID:: 16835904

Details of each submission

From Ambry Genetics, SCV001445298.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	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	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

ClinVar

Relating variation to medicine