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NM_005859.5(PURA):c.387G>C (p.Pro129=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 15, 2019
Accession:
VCV000772318.3
Variation ID:
772318
Description:
single nucleotide variant
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NM_005859.5(PURA):c.387G>C (p.Pro129=)

Allele ID
698829
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.3
Genomic location
5: 140114568 (GRCh38) GRCh38 UCSC
5: 139494153 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.140114568G>C
NC_000005.9:g.139494153G>C
NM_005859.5:c.387G>C MANE Select NP_005850.1:p.Pro129= synonymous
NG_041813.1:g.5446G>C
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:140114567:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
dbSNP: rs777864550
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 May 15, 2019 RCV000951843.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PURA Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
285 303

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 15, 2019)
criteria provided, single submitter
Method: clinical testing
Mental retardation, autosomal dominant 31
Allele origin: germline
Invitae
Accession: SCV001098286.3
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 rs777864550...

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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 Aug 20, 2021