NM_000540.3(RYR1):c.7097C>G (p.Pro2366Arg) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 27, 2017
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:: RCV000119686.5

Allele description [Variation Report for NM_000540.3(RYR1):c.7097C>G (p.Pro2366Arg)]

NM_000540.3(RYR1):c.7097C>G (p.Pro2366Arg)

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.7097C>G (p.Pro2366Arg)

Other names:

NM_000540.2(RYR1):c.7097C>G; p.Pro2366Arg

HGVS:

NC_000019.10:g.38499704C>G
NG_008866.1:g.71005C>G
NM_000540.3:c.7097C>GMANE SELECT
NM_001042723.2:c.7097C>G
NP_000531.2:p.Pro2366Arg
NP_000531.2:p.Pro2366Arg
NP_001036188.1:p.Pro2366Arg
LRG_766t1:c.7097C>G
LRG_766:g.71005C>G
LRG_766p1:p.Pro2366Arg
NC_000019.9:g.38990344C>G
NM_000540.2:c.7097C>G
p.(Pro2366Arg)

Protein change:

P2366R

Links:

dbSNP: rs193922806

NCBI 1000 Genomes Browser:

rs193922806

Molecular consequence:

NM_000540.3:c.7097C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.7097C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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uncharacterized protein MONBRDRAFT_22693, partial [Monosiga brevicollis MX1]
uncharacterized protein MONBRDRAFT_22693, partial [Monosiga brevicollis MX1]
gi|167517209|ref|XP_001742945.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000154593	Leiden Muscular Dystrophy (RYR1)	no classification provided	not provided	unknown	not provided	PubMed (2) [See all records that cite these PMIDs] 16917943, 16732080
SCV000852751	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000154593

Leiden Muscular Dystrophy (RYR1)

no classification provided

not provided

unknown

not provided

PubMed (2)
[See all records that cite these PMIDs]

SCV000852751

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 27, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in RYR1 in malignant hyperthermia and central core disease.

Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.

Hum Mutat. 2006 Oct;27(10):977-89. Review.

PubMed [citation]

PMID:: 16917943

Ansel Marion Caine, M.D.: a timeless lesson in professionalism?

Bacon DR.

Anesthesiology. 2006 Jun;104(6):1122-3. No abstract available.

PubMed [citation]

PMID:: 16732080

See all PubMed Citations (3)

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154593.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From PreventionGenetics, part of Exact Sciences, SCV000852751.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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