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NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
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:
RCV000735351.3

Allele description [Variation Report for NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)]

NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)

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.8290G>A (p.Glu2764Lys)
Other names:
NM_000540.3(RYR1):c.8290G>A
HGVS:
  • NC_000019.10:g.38505061G>A
  • NG_008866.1:g.76362G>A
  • NM_000540.3:c.8290G>AMANE SELECT
  • NM_001042723.2:c.8290G>A
  • NP_000531.2:p.Glu2764Lys
  • NP_000531.2:p.Glu2764Lys
  • NP_001036188.1:p.Glu2764Lys
  • LRG_766t1:c.8290G>A
  • LRG_766:g.76362G>A
  • LRG_766p1:p.Glu2764Lys
  • NC_000019.9:g.38995701G>A
  • NM_000540.2:c.8290G>A
  • p.(Glu2764Lys)
Protein change:
E2764K
Links:
dbSNP: rs193922829
NCBI 1000 Genomes Browser:
rs193922829
Molecular consequence:
  • NM_000540.3:c.8290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.8290G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ankyloglossia
Synonyms:
Tongue tie
Identifiers:
MONDO: MONDO:0007125; MedGen: C0152415; OMIM: 106280; Human Phenotype Ontology: HP:0010296
Name:
Coarctation of aorta
Synonyms:
Aorta coarctation
Identifiers:
MONDO: MONDO:0007345; MedGen: C0003492; Orphanet: 1457; OMIM: 120000; Human Phenotype Ontology: HP:0001680
Name:
Atrial septal defect (ASD)
Synonyms:
Interatrial communication; Defect in the atrial septum
Identifiers:
MONDO: MONDO:0006664; MedGen: C0018817; Orphanet: 1478; OMIM: PS108800; Human Phenotype Ontology: HP:0001631
Name:
Heart block
Identifiers:
MedGen: C0018794; Human Phenotype Ontology: HP:0012722
Name:
Clinodactyly of the 5th finger
Identifiers:
MedGen: C1850049; Human Phenotype Ontology: HP:0004209
Name:
Generalized hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290
Name:
Delayed gross motor development
Identifiers:
MedGen: C1837658; Human Phenotype Ontology: HP:0002194
Name:
Bronchomalacia
Identifiers:
MedGen: C0264353; Human Phenotype Ontology: HP:0002780
Name:
Sagittal craniosynostosis
Identifiers:
MedGen: C0432123; Human Phenotype Ontology: HP:0004442
Name:
Bilateral single transverse palmar creases
Identifiers:
MedGen: C1862095; Human Phenotype Ontology: HP:0007598
Name:
Bicoronal synostosis
Identifiers:
MedGen: C4021164; Human Phenotype Ontology: HP:0011318
Name:
Ventricular septal defect
Identifiers:
MONDO: MONDO:0002070; MedGen: C0018818; OMIM: PS614429; Human Phenotype Ontology: HP:0001629

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854505Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854505.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Nov 18, 2024