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NM_006231.4(POLE):c.857C>G (p.Pro286Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
7 (Most recent: Feb 5, 2018)
Last evaluated:
Feb 1, 2017
Accession:
VCV000376500.1
Variation ID:
376500
Description:
single nucleotide variant
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NM_006231.4(POLE):c.857C>G (p.Pro286Arg)

Allele ID
363379
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.33
Genomic location
12: 132676598 (GRCh38) GRCh38 UCSC
12: 133253184 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_789:g.15927C>G
LRG_789t1:c.857C>G LRG_789p1:p.Pro286Arg
NM_006231.3:c.857C>G NP_006222.2:p.Pro286Arg missense
... more HGVS
Protein change
P286R
Other names
-
Canonical SPDI
NC_000012.12:132676597:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602932
dbSNP: rs1057519943
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 Feb 1, 2017 RCV000532834.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000426701.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000427424.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000437655.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000443524.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000443610.1
drug response 1 no assertion criteria provided Nov 27, 2017 RCV000626454.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POLE Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4997 5033

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 01, 2017)
criteria provided, single submitter
Method: clinical testing
Colorectal cancer, susceptibility to, 12
Allele origin: germline
Invitae
Accession: SCV000653485.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces proline with arginine at codon 286 of the POLE protein (p.Pro286Arg). The proline residue is highly conserved and there is a … (more)
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Uterine Carcinosarcoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507149.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant neoplasm of body of uterus
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507146.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Breast neoplasm
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507147.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507148.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Pancreatic adenocarcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507150.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
drug response
Association with hypermutated phenotype, likely to respond to anti-PDL1 therapies.
(Nov 27, 2017)
no assertion criteria provided
Method: clinical testing
Anti-PDL1 response
Drug used for Cancer
Allele origin: somatic
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust
Accession: SCV000734844.1
Submitted: (Feb 05, 2018)
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
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
http://docm.genome.wustl.edu/variants/ENST00000320574:c.857C>G - - - -

Text-mined citations for rs1057519943...

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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 Nov 27, 2021