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NM_145239.3(PRRT2):c.912C>T (p.Asp304=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Aug 22, 2020
Accession:
VCV000383530.10
Variation ID:
383530
Description:
single nucleotide variant
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NM_145239.3(PRRT2):c.912C>T (p.Asp304=)

Allele ID
377498
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p11.2
Genomic location
16: 29814365 (GRCh38) GRCh38 UCSC
16: 29825686 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.29814365C>T
NC_000016.9:g.29825686C>T
NG_032039.1:g.7278C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:29814364:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA7994624
dbSNP: rs759633234
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Feb 1, 2016 RCV000433887.1
Likely benign 1 criteria provided, single submitter Aug 22, 2020 RCV001489666.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 1, 2018 RCV000761932.4
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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
Likely benign
(Feb 01, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000523947.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001053604.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000892159.8
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Aug 22, 2020)
criteria provided, single submitter
Method: clinical testing
Paroxysmal kinesigenic dyskinesia
Allele origin: germline
Invitae
Accession: SCV001694214.1
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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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 rs759633234...

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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 07, 2021