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NM_000540.3(RYR1):c.7737G>A (p.Val2579=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Oct 20, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000147443.9

Allele description [Variation Report for NM_000540.3(RYR1):c.7737G>A (p.Val2579=)]

NM_000540.3(RYR1):c.7737G>A (p.Val2579=)

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.7737G>A (p.Val2579=)
HGVS:
  • NC_000019.10:g.38502629G>A
  • NG_008866.1:g.73930G>A
  • NM_000540.3:c.7737G>AMANE SELECT
  • NM_001042723.2:c.7737G>A
  • NP_000531.2:p.Val2579=
  • NP_000531.2:p.Val2579=
  • NP_001036188.1:p.Val2579=
  • LRG_766t1:c.7737G>A
  • LRG_766:g.73930G>A
  • LRG_766p1:p.Val2579=
  • NC_000019.9:g.38993269G>A
  • NM_000540.2:c.7737G>A
  • NP_000531.2:p.(=)
Links:
dbSNP: rs114975624
NCBI 1000 Genomes Browser:
rs114975624
Molecular consequence:
  • NM_000540.3:c.7737G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042723.2:c.7737G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000194861Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)		Uncertain significance
(Mar 4, 2013) 		germlineclinical testing

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

SCV004562305ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Oct 20, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000194861.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004562305.1

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

Last Updated: Sep 29, 2024