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NM_000540.3(RYR1):c.13244_13264dup (p.Ala4415_Asp4421dup) AND RYR1-related disorder

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 13, 2021
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:
RCV001050278.4

Allele description [Variation Report for NM_000540.3(RYR1):c.13244_13264dup (p.Ala4415_Asp4421dup)]

NM_000540.3(RYR1):c.13244_13264dup (p.Ala4415_Asp4421dup)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.13244_13264dup (p.Ala4415_Asp4421dup)
HGVS:
  • NC_000019.10:g.38565578_38565598dup
  • NG_008866.1:g.136879_136899dup
  • NM_000540.3:c.13244_13264dupMANE SELECT
  • NM_001042723.2:c.13229_13249dup
  • NP_000531.2:p.Ala4415_Asp4421dup
  • NP_000531.2:p.Ala4415_Asp4421dup
  • NP_001036188.1:p.Ala4410_Asp4416dup
  • LRG_766t1:c.13244_13264dup
  • LRG_766:g.136879_136899dup
  • LRG_766p1:p.Ala4415_Asp4421dup
  • NC_000019.9:g.39056201_39056202insGAGGGCGCTGGAGACGCCGCG
  • NC_000019.9:g.39056218_39056238dup
  • NM_000540.2:c.13244_13264dup
  • NM_000540.2:c.13244_13264dup
  • NM_000540.2:c.13244_13264dup21
  • NM_000540.2:c.13244_13264dup21
  • NM_000540.3:c.13244_13264dup21MANE SELECT
Links:
dbSNP: rs763413580
NCBI 1000 Genomes Browser:
rs763413580
Molecular consequence:
  • NM_000540.3:c.13244_13264dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001042723.2:c.13229_13249dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000852340PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Sep 12, 2024) 		germlineclinical testing

SCV001214377Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 13, 2021) 		germlineclinical testing

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

Help

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 PreventionGenetics, part of Exact Sciences, SCV000852340.2

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

Description

The RYR1 c.13244_13264dup21 variant is predicted to result in an in-frame duplication (p.Ala4415_Asp4421dup). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of Latino 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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001214377.3

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

Description

This variant, c.13244_13264dup, results in the insertion of 7 amino acid(s) to the RYR1 protein (p.Ala4415_Asp4421dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with congenital myopathy (Invitae). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 13, 2024