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NM_006231.4(POLE):c.6674G>A (p.Arg2225His) AND POLE-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 29, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004532935.2

Allele description [Variation Report for NM_006231.4(POLE):c.6674G>A (p.Arg2225His)]

NM_006231.4(POLE):c.6674G>A (p.Arg2225His)

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.6674G>A (p.Arg2225His)
HGVS:
  • NC_000012.12:g.132624978C>T
  • NG_033840.1:g.67547G>A
  • NM_006231.4:c.6674G>AMANE SELECT
  • NP_006222.2:p.Arg2225His
  • NP_006222.2:p.Arg2225His
  • LRG_789t1:c.6674G>A
  • LRG_789:g.67547G>A
  • LRG_789p1:p.Arg2225His
  • NC_000012.11:g.133201564C>T
  • NM_006231.2:c.6674G>A
  • NM_006231.3:c.6674G>A
Protein change:
R2225H
Links:
dbSNP: rs538875477
NCBI 1000 Genomes Browser:
rs538875477
Molecular consequence:
  • NM_006231.4:c.6674G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
POLE-related disorder
Synonyms:
POLE-related disorders; POLE-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004752392PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Dec 29, 2023)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004752392.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The POLE c.6674G>A variant is predicted to result in the amino acid substitution p.Arg2225His. This variant has been reported in a mutagenesis screen (Table S2, Campbell et al. 2017. PubMed ID: 29056344). This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD and is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/240612/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025