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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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1998-11-01 | no assertion criteria provided | MSH2 POLYMORPHISM |
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Detail |
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2013-09-05 | reviewed by expert panel | Lynch syndrome |
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Detail |
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2023-11-02 | criteria provided, single submitter | not provided |
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Detail |
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2023-07-07 | criteria provided, multiple submitters, no conflicts | Lynch syndrome 1 |
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Detail |
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2022-08-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-02-01 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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2019-01-01 | criteria provided, single submitter | breast carcinoma |
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Detail |
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no assertion criteria provided | Carcinoma of colon |
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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>A polymorphism of the hMLH1 gene singly and... | BeFree | 25804231 | Detail |
0.012 | Malignant neoplasm of endometrium | Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and... | BeFree | 25804231 | Detail |
0.037 | endometrial carcinoma | Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and... | BeFree | 25804231 | Detail |
0.012 | uterine corpus cancer | Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and... | BeFree | 25804231 | Detail |
0.031 | endometrial carcinoma | Our results suggest that the -93G>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>A polymorphism of the hMLH1 gene singly and... | BeFree | 25804231 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
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>A (r... | DisGeNET | Detail |
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (r... | DisGeNET | Detail |
We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (r... | DisGeNET | Detail |
Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and in combination with... | DisGeNET | Detail |
Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and in combination with... | DisGeNET | Detail |
Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and in combination with... | DisGeNET | Detail |
Our results suggest that the -93G>A polymorphism of the hMLH1 gene singly and in combination with... | DisGeNET | Detail |
Our results suggest that the -93G>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>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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