NM_006231.4(POLE):c.1396A>G (p.Thr466Ala) AND Colon cancer

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 15, 2017
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:: RCV000677898.1

Allele description [Variation Report for NM_006231.4(POLE):c.1396A>G (p.Thr466Ala)]

NM_006231.4(POLE):c.1396A>G (p.Thr466Ala)

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.1396A>G (p.Thr466Ala)

HGVS:

NC_000012.12:g.132673241T>C
NG_033840.1:g.19284A>G
NM_006231.4:c.1396A>GMANE SELECT
NP_006222.2:p.Thr466Ala
LRG_789:g.19284A>G
NC_000012.11:g.133249827T>C
NM_006231.2:c.1396A>G

Protein change:

T466A

Links:

dbSNP: rs761765763

NCBI 1000 Genomes Browser:

rs761765763

Molecular consequence:

NM_006231.4:c.1396A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Colon cancer
Synonyms:: Malignant tumor of colon
Identifiers:: MONDO: MONDO:0021063; MedGen: C0007102; Human Phenotype Ontology: HP:0003003

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000804059	3DMed Clinical Laboratory Inc	no assertion criteria provided (ACMG Guidelines, 2015)	Uncertain significance (Jun 15, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000804059

3DMed Clinical Laboratory Inc

no assertion criteria provided

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 15, 2017)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From 3DMed Clinical Laboratory Inc, SCV000804059.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine