NM_170672.2(RASGRP3):c.-261+9727G>T AND Lip and oral cavity carcinoma

Clinical significance:association (Last evaluated: Nov 2, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000225002.1

Allele description [Variation Report for NM_170672.2(RASGRP3):c.-261+9727G>T]

NM_170672.2(RASGRP3):c.-261+9727G>T

Gene:
RASGRP3:RAS guanyl releasing protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_170672.2(RASGRP3):c.-261+9727G>T
HGVS:
  • NC_000002.12:g.33457670G>T
  • NG_053077.1:g.26323G>T
  • NM_170672.2:c.-261+9727G>T
  • NC_000002.11:g.33682737G>T
Links:
dbSNP: rs2124437
NCBI 1000 Genomes Browser:
rs2124437
Molecular consequence:
  • NM_170672.2:c.-261+9727G>T - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
probably has functional consequence

Condition(s)

Name:
Lip and oral cavity carcinoma
Identifiers:
MedGen: C0220641

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268425Department of Biological Science,Sunandan Divatia School of Science, NMIMS Universitycriteria provided, single submitter
association
(Nov 2, 2015)
not applicablecase-control

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedcase-control

Citations

PubMed

Gene polymorphisms and oral cancer risk in tobacco habitu├ęs.

Multani S, Pradhan S, Saranath D.

Tumour Biol. 2016 May;37(5):6169-76. doi: 10.1007/s13277-015-4448-1. Epub 2015 Nov 27.

PubMed [citation]
PMID:
26614431

Details of each submission

From Department of Biological Science,Sunandan Divatia School of Science, NMIMS University, SCV000268425.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (1)

Description

The frequency of the homozygous SNP genotype AA in cases was 31% from a total of 500 patients analysed and the frequency in the control group comprising of long term tobacco chewers (minimum of 10 years tobacco chewing habit) was 25% of the total 500 subjects. The p-value calculated was <0.01 and the OR was 1.34 (1.01-1.76) indicating a 34% increased risk of oral cancer in tobacco habitues to oral cancer.

Description

The frequency of the homozygous SNP genotypes were observed more in the oral cancer patients in comparison to controls, implying the role of this genotype in predisposition of oral cancer.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providedBloodnot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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