NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu) AND not provided

Germline classification:: Uncertain significance (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:: RCV002264224.19

Allele description [Variation Report for NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu)]

NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu)

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.14282C>T (p.Pro4761Leu)

HGVS:

NC_000019.10:g.38578027C>T
NG_008866.1:g.149328C>T
NM_000540.3:c.14282C>TMANE SELECT
NM_001042723.2:c.14267C>T
NP_000531.2:p.Pro4761Leu
NP_001036188.1:p.Pro4756Leu
LRG_766t1:c.14282C>T
LRG_766:g.149328C>T
NC_000019.9:g.39068667C>T
NC_000019.9:g.39068667C>T
NM_000540.2:c.14282C>T

Protein change:

P4756L

Links:

dbSNP: rs373919284

NCBI 1000 Genomes Browser:

rs373919284

Molecular consequence:

NM_000540.3:c.14282C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.14267C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

D018677 (1)
MeSH
Tooth Injuries
Tooth Injuries
Traumatic or other damage to teeth including fractures (TOOTH FRACTURES) or displacements (TOOTH LUXATION).<br/>Year introduced: 1995

MeSH
AUGMIN subunit 8 [Cucumis sativus]
AUGMIN subunit 8 [Cucumis sativus]
gi|778660097|ref|XP_011655612.1|

Protein
Dnaaf9 dynein axonemal assembly factor 9 [Rattus norvegicus]
Dnaaf9 dynein axonemal assembly factor 9 [Rattus norvegicus]
Gene ID:499891

Gene
499891[uid] AND (alive[prop]) (1)
Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002543923	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Apr 1, 2022)	germline	clinical testing	Citation Link,
SCV003813053	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 2, 2019)	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

SCV002543923

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Apr 1, 2022)

germline

clinical testing

Citation Link,

SCV003813053

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 2, 2019)

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	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 CeGaT Center for Human Genetics Tuebingen, SCV002543923.16

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

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

From Revvity Omics, Revvity, SCV003813053.2

#	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: Oct 20, 2024

ClinVar

Relating variation to medicine