NM_001035.3(RYR2):c.848+1G>A AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 2, 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:: RCV000766706.3

Allele description [Variation Report for NM_001035.3(RYR2):c.848+1G>A]

NM_001035.3(RYR2):c.848+1G>A

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.848+1G>A

HGVS:

NC_000001.11:g.237417124G>A
NG_008799.3:g.379941G>A
NM_001035.3:c.848+1G>AMANE SELECT
LRG_402t1:c.848+1G>A
LRG_402:g.379941G>A
NC_000001.10:g.237580424G>A
NM_001035.2:c.848+1G>A

Links:

dbSNP: rs772984053

NCBI 1000 Genomes Browser:

rs772984053

Molecular consequence:

NM_001035.3:c.848+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000235248	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 2, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000235248

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 2, 2020)

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, SCV000235248.13

#	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 a significant frequency in large population cohorts (Lek et al., 2016); Canonical splice site variant in a gene for which loss-of-function is not a known mechanism of disease; Reported with conflicting interpretations of pathogenicity in ClinVar; including one research laboratory which reports segregation with disease in multiple members of a family and in-house RNA studies showing skipping of exon 11 resulting in an in-frame deletion (ClinVar Variant ID#201371; SCV001156320.1; Landrum et al., 2016)

#	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: Apr 20, 2024

ClinVar

Relating variation to medicine