NM_001035.3(RYR2):c.14703G>C (p.Val4901=) AND not provided

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

Germline classification:: Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:: Aug 1, 2021
Review status:: criteria provided, conflicting classifications

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:: RCV000153880.8

Allele description

NM_001035.3(RYR2):c.14703G>C (p.Val4901=)

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.14703G>C (p.Val4901=)

HGVS:

NC_000001.11:g.237830577G>C
NG_008799.2:g.793176G>C
NG_008799.3:g.793394G>C
NM_001035.3:c.14703G>CMANE SELECT
NP_001026.2:p.Val4901=
LRG_402t1:c.14703G>C
LRG_402:g.793394G>C
LRG_402p1:p.Val4901=
NC_000001.10:g.237993877G>C
NM_001035.2:c.14703G>C
NP_001026.2:p.(=)

Links:

dbSNP: rs201371633

NCBI 1000 Genomes Browser:

rs201371633

Molecular consequence:

NM_001035.3:c.14703G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000203489	EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jan 6, 2014)	germline	clinical testing	Citation Link,
SCV001371563	CeGaT Praxis fuer Humangenetik Tuebingen	criteria provided, single submitter (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)	Likely benign (Aug 1, 2021)	germline	clinical testing	Citation Link,
SCV002008385	GeneDx	criteria provided, single submitter (GeneDX Variant Classification (06012015))	Likely benign (Jul 8, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000203489

EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jan 6, 2014)

germline

clinical testing

Citation Link,

SCV001371563

CeGaT Praxis fuer Humangenetik Tuebingen

criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)

Likely benign
(Aug 1, 2021)

germline

clinical testing

Citation Link,

SCV002008385

GeneDx

criteria provided, single submitter

(GeneDX Variant Classification (06012015))

Likely benign
(Jul 8, 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	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000203489.7

#	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001371563.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From GeneDx, SCV002008385.1

#	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: Nov 29, 2021

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