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NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 10, 2017)
Accession:
VCV000440911.1
Variation ID:
440911
Description:
single nucleotide variant
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NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)

Allele ID
434539
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p11.2
Genomic location
16: 29814412 (GRCh38) GRCh38 UCSC
16: 29825733 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.29814412C>T
NC_000016.9:g.29825733C>T
NM_001256442.2:c.959C>T NP_001243371.1:p.Ala320Val missense
... more HGVS
Protein change
A320V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs1301400509
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter - RCV000515468.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRRT2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
179 408

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: research
Dystonia 10
Seizures, benign familial infantile, 2
(Autosomal dominant inheritance)
Allele origin: paternal
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University
Accession: SCV000606838.1
Submitted: (Oct 10, 2017)
Evidence details

Citations for this variant

Title Author Journal Year Link
A novel <i>PRRT2</i> pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. Lu JG Cold Spring Harbor molecular case studies 2018 PMID: 29167286

Record last updated Aug 25, 2019