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NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND Congenital myopathy with fiber type disproportion

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2016
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:
RCV001197410.5

Allele description [Variation Report for NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)]

NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)

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.7268T>A (p.Met2423Lys)
HGVS:
  • NC_000019.10:g.38499961T>A
  • NG_008866.1:g.71262T>A
  • NM_000540.3:c.7268T>AMANE SELECT
  • NM_001042723.2:c.7268T>A
  • NP_000531.2:p.Met2423Lys
  • NP_000531.2:p.Met2423Lys
  • NP_001036188.1:p.Met2423Lys
  • LRG_766t1:c.7268T>A
  • LRG_766:g.71262T>A
  • LRG_766p1:p.Met2423Lys
  • NC_000019.9:g.38990601T>A
  • NM_000540.2:c.7268T>A
  • P21817:p.Met2423Lys
Protein change:
M2423K; MET2423LYS
Links:
UniProtKB: P21817#VAR_032915; OMIM: 180901.0027; dbSNP: rs118192174
NCBI 1000 Genomes Browser:
rs118192174
Molecular consequence:
  • NM_000540.3:c.7268T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7268T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital myopathy with fiber type disproportion
Synonyms:
Congenital fiber-type disproportion myopathy; Congenital Fiber-Type Disproportion
Identifiers:
MONDO: MONDO:0009711; MedGen: C0546264; Orphanet: 2020

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001368139Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2016) 		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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001368139.2

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

Description

This variant was classified as: Pathogenic.

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

Last Updated: Oct 20, 2024