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NM_000540.3(RYR1):c.97A>C (p.Lys33Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 9, 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:
RCV002713596.2

Allele description [Variation Report for NM_000540.3(RYR1):c.97A>C (p.Lys33Gln)]

NM_000540.3(RYR1):c.97A>C (p.Lys33Gln)

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.97A>C (p.Lys33Gln)
HGVS:
  • NC_000019.10:g.38440796A>C
  • NG_008866.1:g.12097A>C
  • NM_000540.3:c.97A>CMANE SELECT
  • NM_001042723.2:c.97A>C
  • NP_000531.2:p.Lys33Gln
  • NP_000531.2:p.Lys33Gln
  • NP_001036188.1:p.Lys33Gln
  • LRG_766t1:c.97A>C
  • LRG_766:g.12097A>C
  • LRG_766p1:p.Lys33Gln
  • NC_000019.9:g.38931436A>C
  • NM_000540.2:c.97A>C
Protein change:
K33Q
Molecular consequence:
  • NM_000540.3:c.97A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.97A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003558078Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 9, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003558078.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.97A>C (p.K33Q) alteration is located in exon 2 (coding exon 2) of the RYR1 gene. This alteration results from a A to C substitution at nucleotide position 97, causing the lysine (K) at amino acid position 33 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024