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NM_000540.3(RYR1):c.9472+9G>A AND RYR1-Related Disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 2022
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:
RCV002245302.1

Allele description

NM_000540.3(RYR1):c.9472+9G>A

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.9472+9G>A
HGVS:
  • NC_000019.10:g.38512492G>A
  • NG_008866.1:g.83793G>A
  • NM_000540.3:c.9472+9G>AMANE SELECT
  • NM_001042723.2:c.9472+9G>A
  • LRG_766:g.83793G>A
  • NC_000019.9:g.39003132G>A
Links:
dbSNP: rs1392237616
NCBI 1000 Genomes Browser:
rs1392237616
Molecular consequence:
  • NM_000540.3:c.9472+9G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042723.2:c.9472+9G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
RYR1-Related Disorder
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002515369Daryl Scott Lab, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Feb 1, 2022)
biparentalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV002515369.1

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

Last Updated: Feb 28, 2024