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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001175144	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 14, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001175144

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 14, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001175144.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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