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NM_145239.3(PRRT2):c.1020G>A (p.Lys340=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 6, 2020
Accession:
VCV000197380.2
Variation ID:
197380
Description:
single nucleotide variant
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NM_145239.3(PRRT2):c.1020G>A (p.Lys340=)

Allele ID
194541
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p11.2
Genomic location
16: 29814635 (GRCh38) GRCh38 UCSC
16: 29825956 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.29814635G>A
NC_000016.9:g.29825956G>A
NG_032039.1:g.7548G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:29814634:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA245485
dbSNP: rs794727658
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 22, 2015 RCV000178393.1
Likely benign 1 criteria provided, single submitter Feb 6, 2020 RCV001439830.1
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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
Uncertain significance
(Jan 22, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230462.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Feb 06, 2020)
criteria provided, single submitter
Method: clinical testing
Paroxysmal kinesigenic dyskinesia
Allele origin: germline
Invitae
Accession: SCV001642726.1
Submitted: (Jan 07, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PRRT2 - - - -

Text-mined citations for rs794727658...

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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