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NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 25, 2019
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:
RCV001024227.3

Allele description [Variation Report for NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)]

NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)

Gene:
POLE:DNA polymerase epsilon, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
12q24.33
Genomic location:
Preferred name:
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)
HGVS:
  • NC_000012.12:g.132639147TGT[1]
  • NG_033840.1:g.53373ACA[1]
  • NM_006231.2:c.5528_5530del
  • NM_006231.4:c.5525ACA[1]MANE SELECT
  • NP_006222.2:p.Asn1843del
  • LRG_789:g.53373ACA[1]
  • NC_000012.11:g.133215733TGT[1]
  • NC_000012.11:g.133215733_133215735del
  • NM_006231.2:c.5528_5530delACA
  • NM_006231.3:c.5528_5530del
  • NM_006231.4:c.5528_5530delMANE SELECT
Protein change:
N1843del
Links:
dbSNP: rs868246375
NCBI 1000 Genomes Browser:
rs868246375
Molecular consequence:
  • NM_006231.4:c.5525ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001186209Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 25, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001186209.4

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

Description

The c.5528_5530delACA variant (also known as p.N1843del) is located in coding exon 40 of the POLE gene. This variant results from an in-frame ACA deletion at nucleotide positions 5528 to 5530. This results in the in-frame deletion of an asparagine at codon 1843. This amino acid position is not well conserved in available vertebrate species. 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: Oct 8, 2024