NM_006231.4(POLE):c.857C>G (p.Pro286Arg) AND Programmed death ligand-1 (PD-L1) blocking antibody response

Clinical significance:drug response (Last evaluated: Nov 27, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000626454.1

Allele description [Variation Report for NM_006231.4(POLE):c.857C>G (p.Pro286Arg)]

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

Gene:
POLE:DNA polymerase epsilon, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.33
Genomic location:
Preferred name:
NM_006231.4(POLE):c.857C>G (p.Pro286Arg)
HGVS:
  • NC_000012.12:g.132676598G>C
  • NG_033840.1:g.15927C>G
  • NM_006231.3:c.857C>G
  • NM_006231.4:c.857C>GMANE SELECT
  • NP_006222.2:p.Pro286Arg
  • NP_006222.2:p.Pro286Arg
  • LRG_789t1:c.857C>G
  • LRG_789:g.15927C>G
  • LRG_789p1:p.Pro286Arg
  • NC_000012.11:g.133253184G>C
  • NM_006231.2:c.857C>G
Protein change:
P286R
Links:
dbSNP: rs1057519943
NCBI 1000 Genomes Browser:
rs1057519943
Molecular consequence:
  • NM_006231.3:c.857C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006231.4:c.857C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Programmed death ligand-1 (PD-L1) blocking antibody response
Synonyms:
Programmed Death Ligand-1 Blocker response; Anti-PDL1 response
Identifiers:
MedGen: CN299094

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000734844Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trustno assertion criteria provideddrug response
(Nov 27, 2017)
Condition: Anti-PDL1 response
Drug reported used for: Cancer
somaticclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust, SCV000734844.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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