NM_006231.4(POLE):c.21_24dup (p.Arg9fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2020
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:
RCV001014439.4

Allele description [Variation Report for NM_006231.4(POLE):c.21_24dup (p.Arg9fs)]

NM_006231.4(POLE):c.21_24dup (p.Arg9fs)

Genes:
LOC130009266:ATAC-STARR-seq lymphoblastoid silent region 5123 [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.21_24dup (p.Arg9fs)
HGVS:
  • NC_000012.12:g.132687293CGCC[3]
  • NC_000012.12:g.132687293_132687296CGCC[3]
  • NG_033840.1:g.5226GCGG[3]
  • NM_006231.4:c.21_24dupMANE SELECT
  • NP_006222.2:p.Arg9fs
  • LRG_789:g.5226GCGG[3]
  • NC_000012.11:g.133263877_133263878insCCGC
  • NC_000012.11:g.133263879CGCC[3]
  • NM_006231.2:c.21_24dupGCGG
Protein change:
R9fs
Links:
dbSNP: rs1593099111
NCBI 1000 Genomes Browser:
rs1593099111
Molecular consequence:
  • NM_006231.4:c.21_24dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001175144Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2020) 		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, SCV001175144.4

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

Description

The c.21_24dupGCGG variant, located in coding exon 1 of the POLE gene, results from a duplication of GCGG at nucleotide positions 21 to 24, causing a translational frameshift with a predicted alternate stop codon (p.R9Afs*16). This alteration is expected to result in loss of function by premature protein truncation; however, loss of function of POLE has not been clearly established as a mechanism of disease. 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