NM_000540.2(RYR1):c.10627-1G>C AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jan 29, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000712948.1

Allele description [Variation Report for NM_000540.2(RYR1):c.10627-1G>C]

NM_000540.2(RYR1):c.10627-1G>C

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.2(RYR1):c.10627-1G>C
HGVS:
  • NC_000019.10:g.38526992G>C
  • NG_008866.1:g.98293G>C
  • NM_000540.2:c.10627-1G>C
  • NM_001042723.2:c.10612-1G>C
  • LRG_766t1:c.10627-1G>C
  • LRG_766:g.98293G>C
  • NC_000019.9:g.39017632G>C
Links:
dbSNP: rs1568539909
NCBI 1000 Genomes Browser:
rs1568539909
Molecular consequence:
  • NM_000540.2:c.10627-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001042723.2:c.10612-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000843507Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Aug 18, 2017)
germlineclinical testing

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

SCV000852218PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Likely pathogenic
(Jan 29, 2018)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

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 Athena Diagnostics Inc, SCV000843507.1

#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 PreventionGenetics,PreventionGenetics, SCV000852218.1

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

Last Updated: Jun 23, 2021

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