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NM_000540.2(RYR1):c.15030T>A (p.Tyr5010Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 23, 2018)
Last evaluated:
Oct 31, 2016
Accession:
VCV000425187.1
Variation ID:
425187
Description:
single nucleotide variant
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NM_000540.2(RYR1):c.15030T>A (p.Tyr5010Ter)

Allele ID
413521
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 38587333 (GRCh38) GRCh38 UCSC
19: 39077973 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.38587333T>A
NC_000019.9:g.39077973T>A
NM_000540.2:c.15030T>A NP_000531.2:p.Tyr5010Ter nonsense
... more HGVS
Protein change
Y5010*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16621739
dbSNP: rs1064797243
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 31, 2016 RCV000488151.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RYR1 No evidence available No evidence available GRCh38
GRCh37
2626 2637

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 31, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000575187.5
Submitted: (Oct 23, 2018)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Nov 01, 2019