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NM_000540.3(RYR1):c.7584C>G (p.Pro2528=) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Apr 1, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001711549.12

Allele description [Variation Report for NM_000540.3(RYR1):c.7584C>G (p.Pro2528=)]

NM_000540.3(RYR1):c.7584C>G (p.Pro2528=)

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.7584C>G (p.Pro2528=)
HGVS:
  • NC_000019.10:g.38500960C>G
  • NG_008866.1:g.72261C>G
  • NM_000540.3:c.7584C>GMANE SELECT
  • NM_001042723.2:c.7584C>G
  • NP_000531.2:p.Pro2528=
  • NP_000531.2:p.Pro2528=
  • NP_001036188.1:p.Pro2528=
  • LRG_766t1:c.7584C>G
  • LRG_766:g.72261C>G
  • LRG_766p1:p.Pro2528=
  • NC_000019.9:g.38991600C>G
  • NM_000540.2:c.7584C>G
Links:
dbSNP: rs1465698
NCBI 1000 Genomes Browser:
rs1465698
Molecular consequence:
  • NM_000540.3:c.7584C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042723.2:c.7584C>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000714980GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Aug 10, 2018) 		germlineclinical testing

Citation Link,

SCV004141609CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Apr 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000714980.3

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

From CeGaT Center for Human Genetics Tuebingen, SCV004141609.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

RYR1: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024