NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr) AND Catecholaminergic polymorphic ventricular tachycardia 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 30, 2023
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:: RCV002550078.9

Allele description

NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr)

Other names:

p.Ile2960Thr

HGVS:

NC_000001.11:g.237678096T>C
NG_008799.3:g.640913T>C
NM_001035.2:c.8879T>C
NM_001035.3:c.8879T>CMANE SELECT
NP_001026.2:p.Ile2960Thr
LRG_402t1:c.8879T>C
LRG_402:g.640913T>C
LRG_402p1:p.Ile2960Thr
NC_000001.10:g.237841396T>C

Protein change:

I2960T

Links:

dbSNP: rs759048462

NCBI 1000 Genomes Browser:

rs759048462

Molecular consequence:

NM_001035.3:c.8879T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Catecholaminergic polymorphic ventricular tachycardia 1
Synonyms:: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
Identifiers:: MONDO: MONDO:0011484; MedGen: C1631597; Orphanet: 3286; OMIM: 604772

Recent activity

Clear Turn Off Turn On

PREDICTED: Homo sapiens HSPB1 associated protein 1 (HSPBAP1), transcript variant...
PREDICTED: Homo sapiens HSPB1 associated protein 1 (HSPBAP1), transcript variant X3, mRNA
gi|2462592582|ref|XM_054347861.1|

Nucleotide
PREDICTED: Homo sapiens HSPB1 associated protein 1 (HSPBAP1), transcript variant...
PREDICTED: Homo sapiens HSPB1 associated protein 1 (HSPBAP1), transcript variant X1, mRNA
gi|2217346038|ref|XM_047448918.1|

Nucleotide
PREDICTED: Homo sapiens HSPB1 associated protein 1 (HSPBAP1), transcript variant...
PREDICTED: Homo sapiens HSPB1 associated protein 1 (HSPBAP1), transcript variant X4, mRNA
gi|2217346043|ref|XM_005247762.3|

Nucleotide
XX_17GW_p0_PF236
XX_17GW_p0_PF236

biosample
Escherichia hermannii strain PR15 16S ribosomal RNA gene, partial sequence
Escherichia hermannii strain PR15 16S ribosomal RNA gene, partial sequence
gi|785997994|gb|KP226578.1|

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
SCV001565145	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Aug 30, 2023)	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

SCV001565145

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Aug 30, 2023)

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 Invitae, SCV001565145.4

#	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: Sep 16, 2024

ClinVar

Relating variation to medicine