NM_000540.3(RYR1):c.9034A>G (p.Asn3012Asp) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 26, 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:: RCV002758217.2

Allele description [Variation Report for NM_000540.3(RYR1):c.9034A>G (p.Asn3012Asp)]

NM_000540.3(RYR1):c.9034A>G (p.Asn3012Asp)

Gene:

RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.9034A>G (p.Asn3012Asp)

HGVS:

NC_000019.10:g.38510693A>G
NG_008866.1:g.81994A>G
NM_000540.3:c.9034A>GMANE SELECT
NM_001042723.2:c.9034A>G
NP_000531.2:p.Asn3012Asp
NP_000531.2:p.Asn3012Asp
NP_001036188.1:p.Asn3012Asp
LRG_766t1:c.9034A>G
LRG_766:g.81994A>G
LRG_766p1:p.Asn3012Asp
NC_000019.9:g.39001333A>G
NM_000540.2:c.9034A>G

Protein change:

N3012D

Molecular consequence:

NM_000540.3:c.9034A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.9034A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003577260	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 26, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003577260

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 26, 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, SCV003577260.2

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

Description

The c.9034A>G (p.N3012D) alteration is located in exon 60 (coding exon 60) of the RYR1 gene. This alteration results from an A to G substitution at nucleotide position 9034, causing the asparagine (N) at amino acid position 3012 to be replaced by an aspartic acid (D). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, 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: May 1, 2024

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