NM_000540.3(RYR1):c.14561TGG[1] (p.Val4855del) AND RYR1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 2020
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:: RCV000821183.8

Allele description [Variation Report for NM_000540.3(RYR1):c.14561TGG[1] (p.Val4855del)]

NM_000540.3(RYR1):c.14561TGG[1] (p.Val4855del)

Gene:

RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.14561TGG[1] (p.Val4855del)

HGVS:

NC_000019.10:g.38580419TGG[1]
NG_008866.1:g.151720TGG[1]
NM_000540.3:c.14561TGG[1]MANE SELECT
NM_001042723.2:c.14546TGG[1]
NP_000531.2:p.Val4855del
NP_001036188.1:p.Val4850del
LRG_766:g.151720TGG[1]
NC_000019.9:g.39071058_39071060del
NC_000019.9:g.39071059TGG[1]
NM_000540.2:c.14564_14566delTGG

Protein change:

V4850del

Links:

dbSNP: rs1599665089

NCBI 1000 Genomes Browser:

rs1599665089

Molecular consequence:

NM_000540.3:c.14561TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042723.2:c.14546TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: RYR1-related disorder
Synonyms:: RYR1-Related Disorders; RYR1-related condition
Identifiers:: MedGen: CN239331

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myosin-binding protein C, fast-type [Notechis scutatus]
myosin-binding protein C, fast-type [Notechis scutatus]
gi|1487323731|ref|XP_026525336.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000961930	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 18, 2020)	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

SCV000961930

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 18, 2020)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000961930.4

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

Description

This missense change is located in a region of the RYR1 protein where a significant number of previously reported RYR1 missense mutations are found (PMID:¬†16084090). These observations suggest that a previously unreported missense substitution within this region may affect protein function, but experiments have not been done to test this possibility. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with RYR1-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.14564_14566delTGG, results in the deletion of 1 amino acid(s) of the RYR1 protein (p.Val4855del), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

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