chr2:47643457:G>A Detail (hg19) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,643,457-47,643,457
hg38 chr2:47,416,318-47,416,318 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.965G>A NP_000242.1:p.Gly322Asp
NM_001258281.1:c.767G>A NP_001245210.1:p.Gly256Asp
Ensemble ENST00000233146.7:c.965G>A ENST00000233146.7:p.Gly322Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 609309 OMIM
HGNC 7325 HGNC
Ensembl ENSG00000095002 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM26086 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 1998-11-01 no assertion criteria provided MSH2 POLYMORPHISM germline Detail
Benign 2013-09-05 reviewed by expert panel Lynch syndrome germline unknown Detail
Benign 2023-11-02 criteria provided, single submitter not provided germline Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign Likely benign 2023-07-07 criteria provided, multiple submitters, no conflicts Lynch syndrome 1 germline Detail
Benign 2022-08-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2024-02-01 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Likely benign 2019-01-01 criteria provided, single submitter breast carcinoma unknown Detail
Benign no assertion criteria provided Carcinoma of colon unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Triple Negative Breast Neoplasms Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch... BeFree 25134804 Detail
0.365 Turcot syndrome (disorder) Our data demonstrate that MSH2 N127S and G322D per se are not sufficient to trig... BeFree 18470917 Detail
0.002 Tumor Progression We performed a case-control study to test the association between two polymorphi... BeFree 16252083 Detail
0.010 Malignant neoplasm of endometrium We checked the association between EC occurrence and two polymorphisms of MMR ge... BeFree 25804231 Detail
0.010 uterine corpus cancer We checked the association between EC occurrence and two polymorphisms of MMR ge... BeFree 25804231 Detail
0.015 endometrial carcinoma We checked the association between EC occurrence and two polymorphisms of MMR ge... BeFree 25804231 Detail
0.014 Malignant neoplasm of endometrium Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and... BeFree 25804231 Detail
0.012 Malignant neoplasm of endometrium Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and... BeFree 25804231 Detail
0.037 endometrial carcinoma Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and... BeFree 25804231 Detail
0.012 uterine corpus cancer Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and... BeFree 25804231 Detail
0.031 endometrial carcinoma Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and... BeFree 25804231 Detail
0.007 breast carcinoma MSH2-G322D likely does not cause a MMR defect, although this variant has also be... BeFree 19728162 Detail
0.016 Malignant neoplasm of breast MSH2-G322D likely does not cause a MMR defect, although this variant has also be... BeFree 19728162 Detail
0.014 uterine corpus cancer Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and... BeFree 25804231 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) AND MSH2 POLYMORPHISM ClinVar Detail
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) AND Lynch syndrome ClinVar Detail
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) AND not provided ClinVar Detail
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) AND not specified ClinVar Detail
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) AND Lynch syndrome 1 ClinVar Detail
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) AND Breast carcinoma ClinVar Detail
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) AND Carcinoma of colon ClinVar Detail
Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the... DisGeNET Detail
Our data demonstrate that MSH2 N127S and G322D per se are not sufficient to trigger MMR deficiency. DisGeNET Detail
We performed a case-control study to test the association between two polymorphisms in the hMSH2 gen... DisGeNET Detail
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G&gt;A (r... DisGeNET Detail
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G&gt;A (r... DisGeNET Detail
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G&gt;A (r... DisGeNET Detail
Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and in combination with... DisGeNET Detail
Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and in combination with... DisGeNET Detail
Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and in combination with... DisGeNET Detail
Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and in combination with... DisGeNET Detail
Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and in combination with... DisGeNET Detail
MSH2-G322D likely does not cause a MMR defect, although this variant has also been associated with b... DisGeNET Detail
MSH2-G322D likely does not cause a MMR defect, although this variant has also been associated with b... DisGeNET Detail
Our results suggest that the -93G&gt;A polymorphism of the hMLH1 gene singly and in combination with... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4987188 dbSNP
Genome
hg19
Position
chr2:47,643,457-47,643,457
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8608
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121156
Allele Counts in All Race (ExAC)
1709
Heterozygous Counts in All Race (ExAC)
1671
Homozygous Counts in All Race (ExAC)
19
Allele Frequency in All Race (ExAC)
0.014105780976592161
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