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NM_006231.4(POLE):c.857C>A (p.Pro286His)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
5 (Most recent: Jul 18, 2016)
Last evaluated:
May 31, 2016
Accession:
VCV000376502.1
Variation ID:
376502
Description:
single nucleotide variant
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NM_006231.4(POLE):c.857C>A (p.Pro286His)

Allele ID
363381
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>A
NC_000012.11:g.133253184G>T
NC_000012.12:g.132676598G>T
... more HGVS
Protein change
P286H
Other names
-
Canonical SPDI
NC_000012.12:132676597:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602934
dbSNP: rs1057519943
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000417898.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000428131.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000428894.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000439138.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000438366.1
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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
4996 5032

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000507156.1
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: SCV000507157.1
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: SCV000507158.1
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: SCV000507159.1
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
Uterine Carcinosarcoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507160.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

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>A - - - -

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 20, 2021