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NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) AND RYR1-related disorder

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jan 29, 2024
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:
RCV000800203.10

Allele description [Variation Report for NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)]

NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)

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.7902C>A (p.Asn2634Lys)
HGVS:
  • NC_000019.10:g.38502946C>A
  • NG_008866.1:g.74247C>A
  • NM_000540.3:c.7902C>AMANE SELECT
  • NM_001042723.2:c.7902C>A
  • NP_000531.2:p.Asn2634Lys
  • NP_000531.2:p.Asn2634Lys
  • NP_001036188.1:p.Asn2634Lys
  • LRG_766t1:c.7902C>A
  • LRG_766:g.74247C>A
  • LRG_766p1:p.Asn2634Lys
  • NC_000019.9:g.38993586C>A
  • NM_000540.2:c.7902C>A
Protein change:
N2634K
Links:
dbSNP: rs148041292
NCBI 1000 Genomes Browser:
rs148041292
Molecular consequence:
  • NM_000540.3:c.7902C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7902C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
RYR1-related disorder
Synonyms:
RYR1-Related Disorders; RYR1-related condition
Identifiers:
MedGen: CN239331

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000939903Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Jan 29, 2024)
germlineclinical testing

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

SCV005364969PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jun 28, 2024)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000939903.6

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

From PreventionGenetics, part of Exact Sciences, SCV005364969.1

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

Description

The RYR1 c.7902C>A variant is predicted to result in the amino acid substitution p.Asn2634Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 8, 2024