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NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 19, 2019
Accession:
VCV000280888.4
Variation ID:
280888
Description:
2bp deletion
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NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)

Allele ID
264624
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
16p11.2
Genomic location
16: 29813378-29813379 (GRCh38) GRCh38 UCSC
16: 29824699-29824700 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.29813378_29813379del
NC_000016.9:g.29824699_29824700del
NG_032039.1:g.6291_6292del
... more HGVS
Protein change
S110fs
Other names
-
Canonical SPDI
NC_000016.10:29813377:AG:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA10603263
dbSNP: rs886042013
VarSome
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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 Sep 23, 2016 RCV000378110.1
Pathogenic 1 criteria provided, single submitter Dec 19, 2019 RCV001045357.2
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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
337 589

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 23, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000330842.5
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.324_325delAG pathogenic variant in the PRRT2 gene causes a frameshift starting with codon Serine 110, changes this amino acid to a Glutamine residue and … (more)
Pathogenic
(Dec 19, 2019)
criteria provided, single submitter
Method: clinical testing
Paroxysmal kinesigenic dyskinesia
Allele origin: germline
Invitae
Accession: SCV001209202.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Ser110Glnfs*23) in the PRRT2 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Méneret A Neurology 2012 PMID: 22744660
PRRT2 mutations are the major cause of benign familial infantile seizures. Schubert J Human mutation 2012 PMID: 22623405

Text-mined citations for rs886042013...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021