NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 22, 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:: RCV002367975.9

Allele description [Variation Report for NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)]

NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)

Genes:

LOC126806067:BRD4-independent group 4 enhancer GRCh37_chr1:237753258-237754457 [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.3767C>T (p.Pro1256Leu)

HGVS:

NC_000001.11:g.237589961C>T
NG_008799.3:g.552778C>T
NM_001035.3:c.3767C>TMANE SELECT
NP_001026.2:p.Pro1256Leu
LRG_402t1:c.3767C>T
LRG_402:g.552778C>T
LRG_402p1:p.Pro1256Leu
NC_000001.10:g.237753261C>T
NG_008799.2:g.552560C>T
NM_001035.2:c.3767C>T

Protein change:

P1256L

Links:

dbSNP: rs773915323

NCBI 1000 Genomes Browser:

rs773915323

Molecular consequence:

NM_001035.3:c.3767C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002625953	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 22, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002625953

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 22, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002625953.2

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

Description

The p.P1256L variant (also known as c.3767C>T), located in coding exon 30 of the RYR2 gene, results from a C to T substitution at nucleotide position 3767. The proline at codon 1256 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 10, 2024

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