NM_000852.4(GSTP1):c.313A>G (p.Ile105Val) AND Neoplasm of the large intestine

Germline classification:: not provided (1 submission)
Last evaluated:: Mar 10, 2016
Review status:: no classification 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:: RCV000437330.9

Allele description [Variation Report for NM_000852.4(GSTP1):c.313A>G (p.Ile105Val)]

NM_000852.4(GSTP1):c.313A>G (p.Ile105Val)

Gene:

GSTP1:glutathione S-transferase pi 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_000852.4(GSTP1):c.313A>G (p.Ile105Val)

HGVS:

NC_000011.10:g.67585218A>G
NG_012075.1:g.6624A>G
NM_000852.4:c.313A>GMANE SELECT
NP_000843.1:p.Ile105Val
NP_000843.1:p.Ile105Val
LRG_723t1:c.313A>G
LRG_723:g.6624A>G
LRG_723p1:p.Ile105Val
NC_000011.9:g.67352689A>G
NM_000852.3:c.313A>G
P09211:p.Ile105Val

Protein change:

I105V

Links:

PharmGKB Clinical Annotation: 637880221; PharmGKB Clinical Annotation: 827847788; PharmGKB Clinical Annotation: 981238323; UniProtKB: P09211#VAR_014499; OMIM: 134660.0002; OMIM: 134660.0003; dbSNP: rs1695

NCBI 1000 Genomes Browser:

rs1695

Molecular consequence:

NM_000852.4:c.313A>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000505737	Database of Curated Mutations (DoCM)	no classification provided	not provided	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

SCV000505737

Database of Curated Mutations (DoCM)

no classification provided

not provided

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

Influence of GSTP1 I105V polymorphism on cumulative neuropathy and outcome of FOLFOX-4 treatment in Asian patients with colorectal carcinoma.

Chen YC, Tzeng CH, Chen PM, Lin JK, Lin TC, Chen WS, Jiang JK, Wang HS, Wang WS.

Cancer Sci. 2010 Feb;101(2):530-5. doi: 10.1111/j.1349-7006.2009.01418.x. Epub 2009 Oct 28.

PubMed [citation]

PMID:: 19922504
PMCID:: PMC11158438

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505737.1

#	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 10, 2024

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