NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter) AND Carcinoma of colon

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2000
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:: RCV000006237.4

Allele description [Variation Report for NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter)]

NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter)

Gene:

AXIN2:axin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.1

Genomic location:

Preferred name:

NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter)

HGVS:

NC_000017.11:g.65536345C>A
NG_012142.1:g.30278G>T
NM_001363813.1:c.1921G>T
NM_004655.4:c.2116G>TMANE SELECT
NP_001350742.1:p.Glu641Ter
NP_004646.3:p.Glu706Ter
LRG_296t1:c.2116G>T
LRG_296:g.30278G>T
LRG_296p1:p.Glu706Ter
NC_000017.10:g.63532463C>A

Protein change:

E641*; GLU706TER

Links:

OMIM: 604025.0001; dbSNP: rs121908567

NCBI 1000 Genomes Browser:

rs121908567

Molecular consequence:

NM_001363813.1:c.1921G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004655.4:c.2116G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Carcinoma of colon (CRC)
Synonyms:: Colonic carcinoma; Colon carcinoma
Identifiers:: MONDO: MONDO:0002032; MedGen: C0699790

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
SCV000026419	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2000)	somatic	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026419

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2000)

somatic

literature only

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	somatic	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling.

Liu W, Dong X, Mai M, Seelan RS, Taniguchi K, Krishnadath KK, Halling KC, Cunningham JM, Boardman LA, Qian C, Christensen E, Schmidt SS, Roche PC, Smith DI, Thibodeau SN.

Nat Genet. 2000 Oct;26(2):146-7. No abstract available. Erratum in: Nat Genet 2000 Dec;26(4):501.

PubMed [citation]

PMID:: 11017067

Details of each submission

From OMIM, SCV000026419.1

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

Description

In colorectal cancers (114500) from 6 patients, Liu et al. (2000) found a frameshift mutation in the AXIN2 gene: 2084insG, predicting a glu706-to-ter (E706X) nonsense mutation.

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine