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NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser) AND Congenital multicore myopathy with external ophthalmoplegia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2017
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:
RCV001124723.4

Allele description [Variation Report for NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser)]

NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser)

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.7787C>G (p.Thr2596Ser)
HGVS:
  • NC_000019.10:g.38502679C>G
  • NG_008866.1:g.73980C>G
  • NM_000540.3:c.7787C>GMANE SELECT
  • NM_001042723.2:c.7787C>G
  • NP_000531.2:p.Thr2596Ser
  • NP_001036188.1:p.Thr2596Ser
  • LRG_766t1:c.7787C>G
  • LRG_766:g.73980C>G
  • NC_000019.9:g.38993319C>G
  • NC_000019.9:g.38993319C>G
  • NM_000540.2:c.7787C>G
Protein change:
T2596S
Links:
dbSNP: rs193922824
NCBI 1000 Genomes Browser:
rs193922824
Molecular consequence:
  • NM_000540.3:c.7787C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7787C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital multicore myopathy with external ophthalmoplegia (CMYO1B)
Synonyms:
MULTICORE MYOPATHY; Minicore myopathy with external ophthalmoplegia; Multicore myopathy with external ophthalmoplegia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009712; MedGen: C1850674; Orphanet: 598; OMIM: 255320; Human Phenotype Ontology: HP:0003789

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001283708Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001283708.1

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

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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Jul 29, 2024