NM_001035.3(RYR2):c.774-289_774-288insGAGA AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 26, 2018
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:: RCV001567849.3

Allele description [Variation Report for NM_001035.3(RYR2):c.774-289_774-288insGAGA]

NM_001035.3(RYR2):c.774-289_774-288insGAGA

Gene:

RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_001035.3(RYR2):c.774-289_774-288insGAGA

HGVS:

NC_000001.11:g.237416760_237416761insGAGA
NG_008799.3:g.379577_379578insGAGA
NM_001035.3:c.774-289_774-288insGAGAMANE SELECT
LRG_402t1:c.774-289_774-288insGAGA
LRG_402:g.379577_379578insGAGA
NC_000001.10:g.237580060_237580061insGAGA

Links:

dbSNP: rs5781955

NCBI 1000 Genomes Browser:

rs5781955

Molecular consequence:

NM_001035.3:c.774-289_774-288insGAGA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Galactolipids
Galactolipids
A group of GLYCOLIPIDS in which the sugar group is GALACTOSE. They are distinguished from GLYCOSPHINGOLIPIDS in lacking nitrogen. They constitute the majority of MEMBRANE LIPI...<br/>Year introduced: 2003

MeSH
Polyhydroxyalkanoates
Polyhydroxyalkanoates
Biodegradable microbial polyesters which contain hydroxyacyl monomers. Polyhydroxyalkanoates are carbon and energy reserve materials produced and sequestered in cytoplasmic gr...<br/>Year introduced: 2008

MeSH
Taxonomy Links for GEO Profiles (Select 87930153) (1)
Taxonomy
Nucleotide Links for GEO Profiles (Select 87930153) (2)
Nucleotide

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
SCV001791613	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jun 26, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001791613

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jun 26, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001791613.1

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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine