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NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 13, 2019)
Last evaluated:
Jan 8, 2016
Accession:
VCV000235466.2
Variation ID:
235466
Description:
single nucleotide variant
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NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)

Allele ID
237149
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 77993367 (GRCh38) GRCh38 UCSC
10: 79753125 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.79753125G>A
NC_000010.11:g.77993367G>A
NG_029648.1:g.41174C>T
NM_007055.4:c.2617C>T MANE Select NP_008986.2:p.Arg873Ter nonsense
Protein change
R873*
Other names
-
Canonical SPDI
NC_000010.11:77993366:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00005
Links
ClinGen: CA5571060
OMIM: 614258.0008
dbSNP: rs148932047
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 Jan 8, 2016 RCV000224488.2
Pathogenic 1 no assertion criteria provided Feb 13, 2019 RCV000755662.1
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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
424 440

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 08, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281068.1
Submitted: (May 19, 2016)
Evidence details
Pathogenic
(Feb 13, 2019)
no assertion criteria provided
Method: literature only
WIEDEMANN-RAUTENSTRAUCH SYNDROME
Allele origin: germline
OMIM
Accession: SCV000883061.1
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
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Jay AM American journal of medical genetics. Part A 2016 PMID: 27612211

Text-mined citations for rs148932047...

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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