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NM_000540.3(RYR1):c.13242C>G (p.Asp4414Glu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 30, 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:
RCV002227487.1

Allele description [Variation Report for NM_000540.3(RYR1):c.13242C>G (p.Asp4414Glu)]

NM_000540.3(RYR1):c.13242C>G (p.Asp4414Glu)

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.13242C>G (p.Asp4414Glu)
HGVS:
  • NC_000019.10:g.38565576C>G
  • NG_008866.1:g.136877C>G
  • NM_000540.3:c.13242C>GMANE SELECT
  • NM_001042723.2:c.13227C>G
  • NP_000531.2:p.Asp4414Glu
  • NP_000531.2:p.Asp4414Glu
  • NP_001036188.1:p.Asp4409Glu
  • LRG_766t1:c.13242C>G
  • LRG_766:g.136877C>G
  • LRG_766p1:p.Asp4414Glu
  • NC_000019.9:g.39056216C>G
  • NM_000540.2:c.13242C>G
Protein change:
D4409E
Links:
dbSNP: rs994374423
NCBI 1000 Genomes Browser:
rs994374423
Molecular consequence:
  • NM_000540.3:c.13242C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.13227C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Central core myopathy (CMYO1A)
Synonyms:
Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000
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
Name:
King Denborough syndrome (KDS)
Synonyms:
King syndrome
Identifiers:
MONDO: MONDO:0020485; MedGen: C1840365; OMIM: 619542

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002506638New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jun 30, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002506638.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024