NM_006231.4(POLE):c.857C>G (p.Pro286Arg) AND Neoplasm of the large intestine

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 31, 2016
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:: RCV000437655.1

Allele description [Variation Report for NM_006231.4(POLE):c.857C>G (p.Pro286Arg)]

NM_006231.4(POLE):c.857C>G (p.Pro286Arg)

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.857C>G (p.Pro286Arg)

HGVS:

NC_000012.12:g.132676598G>C
NG_033840.1:g.15927C>G
NM_006231.4:c.857C>GMANE SELECT
NP_006222.2:p.Pro286Arg
NP_006222.2:p.Pro286Arg
LRG_789t1:c.857C>G
LRG_789:g.15927C>G
LRG_789p1:p.Pro286Arg
NC_000012.11:g.133253184G>C
NM_006231.2:c.857C>G
NM_006231.3:c.857C>G

Protein change:

P286R

Links:

dbSNP: rs1057519943

NCBI 1000 Genomes Browser:

rs1057519943

Molecular consequence:

NM_006231.4:c.857C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neoplasm of the large intestine
Synonyms:: Colorectal Neoplasms; Colorectal neoplasm
Identifiers:: MONDO: MONDO:0005335; MeSH: D015179; MedGen: C0009404; Human Phenotype Ontology: HP:0100834

Recent activity

Clear Turn Off Turn On

RecName: Full=Heterogeneous nuclear ribonucleoprotein Q; Short=hnRNP Q; AltName:...
RecName: Full=Heterogeneous nuclear ribonucleoprotein Q; Short=hnRNP Q; AltName: Full=Glycine- and tyrosine-rich RNA-binding protein; Short=GRY-RBP; AltName: Full=NS1-associated protein 1; AltName: Full=Synaptotagmin-binding, cytoplasmic RNA-interacting protein
gi|92090361|sp|O60506.2|HNRPQ_HUMAN

Protein

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
SCV000507148	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (May 31, 2016)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000507148

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(May 31, 2016)

somatic

literature only

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]

PMID:: 26619011
PMCID:: PMC4744099

Details of each submission

From Database of Curated Mutations (DoCM), SCV000507148.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine