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NM_000540.3(RYR1):c.11761T>C (p.Tyr3921His) AND Congenital multicore myopathy with external ophthalmoplegia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 2023
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:
RCV003153209.1

Allele description [Variation Report for NM_000540.3(RYR1):c.11761T>C (p.Tyr3921His)]

NM_000540.3(RYR1):c.11761T>C (p.Tyr3921His)

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.11761T>C (p.Tyr3921His)
HGVS:
  • NC_000019.10:g.38543418T>C
  • NG_008866.1:g.114719T>C
  • NM_000540.3:c.11761T>CMANE SELECT
  • NM_001042723.2:c.11746T>C
  • NP_000531.2:p.Tyr3921His
  • NP_000531.2:p.Tyr3921His
  • NP_001036188.1:p.Tyr3916His
  • LRG_766t1:c.11761T>C
  • LRG_766:g.114719T>C
  • LRG_766p1:p.Tyr3921His
  • NC_000019.9:g.39034058T>C
  • NM_000540.2:c.11761T>C
Protein change:
Y3916H
Molecular consequence:
  • NM_000540.3:c.11761T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.11746T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital multicore myopathy with external ophthalmoplegia
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0038421043billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 23, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot 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 3billion, SCV003842104.1

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

Description

The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.71; 3Cnet: 0.78). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Jun 2, 2024