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NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 13, 2019)
Last evaluated:
Apr 1, 2018
Accession:
VCV000549561.1
Variation ID:
549561
Description:
single nucleotide variant
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NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter)

Allele ID
540045
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 78000980 (GRCh38) GRCh38 UCSC
10: 79760738 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.79760738G>C
NC_000010.11:g.78000980G>C
NM_007055.4:c.2474C>G MANE Select NP_008986.2:p.Ser825Ter nonsense
NG_029648.1:g.33561C>G
Protein change
S825*
Other names
-
Canonical SPDI
NC_000010.11:78000979:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 614258.0012
dbSNP: rs1564617848
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Apr 1, 2018 RCV000754383.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POLR3A - - GRCh38
GRCh37
409 425

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 01, 2018)
criteria provided, single submitter
Method: research
Neonatal pseudo-hydrocephalic progeroid syndrome
Allele origin: germline
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital
Accession: SCV000786632.1
Submitted: (Apr 30, 2018)
Evidence details
Pathogenic
(Feb 14, 2019)
no assertion criteria provided
Method: literature only
WIEDEMANN-RAUTENSTRAUCH SYNDROME
Allele origin: germline
OMIM
Accession: SCV000883065.1
Submitted: (Feb 13, 2019)
Evidence details
Publications
PubMed (1)

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
Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndrome. Paolacci S Journal of medical genetics 2018 PMID: 30323018

Text-mined citations for rs1564617848...

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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 27, 2021