NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 12, 2021
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:: RCV000182750.5

Allele description [Variation Report for NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys)]

NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys)

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.6940G>A (p.Glu2314Lys)

Other names:

p.E2314K:GAG>AAG

HGVS:

NC_000001.11:g.237639026G>A
NG_008799.3:g.601843G>A
NM_001035.3:c.6940G>AMANE SELECT
NP_001026.2:p.Glu2314Lys
LRG_402t1:c.6940G>A
LRG_402:g.601843G>A
LRG_402p1:p.Glu2314Lys
NC_000001.10:g.237802326G>A
NG_008799.2:g.601625G>A
NM_001035.2:c.6940G>A

Protein change:

E2314K

Links:

dbSNP: rs794728748

NCBI 1000 Genomes Browser:

rs794728748

Molecular consequence:

NM_001035.3:c.6940G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000235135	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Nov 12, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000235135

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Nov 12, 2021)

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, SCV000235135.12

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense variants occur (Medeiros-Domingo et al., 2009)

#	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: Mar 4, 2023

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