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NM_000540.3(RYR1):c.1441-24T>C AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Jun 14, 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:
RCV000119511.2

Allele description [Variation Report for NM_000540.3(RYR1):c.1441-24T>C]

NM_000540.3(RYR1):c.1441-24T>C

Genes:
LOC129391106:MPRA-validated peak3472 silencer [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.1441-24T>C
HGVS:
  • NC_000019.10:g.38455211T>C
  • NG_008866.1:g.26512T>C
  • NM_000540.3:c.1441-24T>CMANE SELECT
  • NM_001042723.2:c.1441-24T>C
  • LRG_766t1:c.1441-24T>C
  • LRG_766:g.26512T>C
  • NC_000019.9:g.38945851T>C
  • NM_000540.2:c.1441-24T>C
  • p.(=)
Links:
dbSNP: rs7254832
NCBI 1000 Genomes Browser:
rs7254832
Molecular consequence:
  • NM_000540.3:c.1441-24T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042723.2:c.1441-24T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000154418Leiden Muscular Dystrophy (RYR1)
no classification provided
not providedunknownnot provided

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

SCV000969856GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Benign
(Jun 14, 2018) 		germlineclinical testing

Citation Link

Description

rs7254832

SCV000154418

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in RYR1 in malignant hyperthermia and central core disease.

Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.

Hum Mutat. 2006 Oct;27(10):977-89. Review.

PubMed [citation]
PMID:
16917943

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154418.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

From GeneDx, SCV000969856.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Jul 29, 2024