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NM_006231.4(POLE):c.1102G>A (p.Asp368Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001017317.3

Allele description [Variation Report for NM_006231.4(POLE):c.1102G>A (p.Asp368Asn)]

NM_006231.4(POLE):c.1102G>A (p.Asp368Asn)

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.1102G>A (p.Asp368Asn)
HGVS:
  • NC_000012.12:g.132675739C>T
  • NG_033840.1:g.16786G>A
  • NM_006231.4:c.1102G>AMANE SELECT
  • NP_006222.2:p.Asp368Asn
  • LRG_789:g.16786G>A
  • NC_000012.11:g.133252325C>T
  • NC_000012.11:g.133252325C>T
  • NM_006231.2:c.1102G>A
Protein change:
D368N
Links:
dbSNP: rs1593077422
NCBI 1000 Genomes Browser:
rs1593077422
Molecular consequence:
  • NM_006231.4:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001178384Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 26, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Stenzinger A, Pfarr N, Endris V, Penzel R, Jansen L, Wolf T, Herpel E, Warth A, Klauschen F, Kloor M, Roth W, Bläker H, Chang-Claude J, Brenner H, Hoffmeister M, Weichert W.

Cancer Med. 2014 Dec;3(6):1527-38. doi: 10.1002/cam4.305. Epub 2014 Aug 1.

PubMed [citation]
PMID:
25124163
PMCID:
PMC4298379

Details of each submission

From Ambry Genetics, SCV001178384.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.D368N variant (also known as c.1102G>A), located in coding exon 11 of the POLE gene, results from a G to A substitution at nucleotide position 1102. The aspartic acid at codon 368 is replaced by asparagine, an amino acid with highly similar properties. This alteration was previously detected in the tumor of one individual with microsatellite stable colorectal cancer from a population-based cohort in Germany; however, germline testing was not performed (Stenzinger A et al. Cancer Med, 2014 Dec;3:1527-38). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024