NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) AND Malignant hyperthermia, susceptibility to, 1

Clinical significance:Likely benign (Last evaluated: May 3, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000282044.2

Allele description [Variation Report for NM_000540.2(RYR1):c.7923C>G (p.Leu2641=)]

NM_000540.2(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_000540.2(RYR1):c.7923C>G (p.Leu2641=)
HGVS:
  • NC_000019.10:g.38502967C>G
  • NG_008866.1:g.74268C>G
  • NM_000540.2:c.7923C>G
  • NM_001042723.2:c.7923C>G
  • 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
Links:
dbSNP: rs142558977
NCBI 1000 Genomes Browser:
rs142558977
Molecular consequence:
  • NM_000540.2:c.7923C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042723.2:c.7923C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Malignant hyperthermia, susceptibility to, 1 (MHS1)
Synonyms:
Anesthesia related hyperthermia; Malignant hyperpyrexia; Fulminating hyperpyrexia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007783; MedGen: C2930980; Orphanet: 423; OMIM: 145600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000412521Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(May 3, 2018)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000412521.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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