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NM_145239.3(PRRT2):c.303del (p.Glu102fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 10, 2018
Accession:
VCV000640387.1
Variation ID:
640387
Description:
1bp deletion
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NM_145239.3(PRRT2):c.303del (p.Glu102fs)

Allele ID
644578
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
16p11.2
Genomic location
16: 29813354 (GRCh38) GRCh38 UCSC
16: 29824675 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.29813357del
NC_000016.9:g.29824678del
NG_032039.1:g.6270del
... more HGVS
Protein change
E102fs
Other names
-
Canonical SPDI
NC_000016.10:29813353:CCCC:CCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1596890692
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 Dec 10, 2018 RCV000793404.1
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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
337 589

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 10, 2018)
criteria provided, single submitter
Method: clinical testing
Paroxysmal kinesigenic dyskinesia
Allele origin: germline
Invitae
Accession: SCV000932755.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Glu102Lysfs*13) 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1596890692...

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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