chr2:47705409:A>G Detail (hg19) (MSH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:47,705,409-47,705,409 |
| hg38 | chr2:47,478,270-47,478,270 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000251.2:c.2211-2A>G | |
| NM_001258281.1:c.2013-2A>G | ||
| Ensemble | ENST00000233146.7:c.2211-2A>G |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
no assertion criteria provided | Carcinoma of colon |
unknown
|
Detail | |
|
Likely pathogenic
|
2020-12-15 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
|
Pathogenic
|
2022-06-29 | criteria provided, single submitter | Hereditary nonpolyposis colon cancer |
germline
|
Detail |
|
Likely pathogenic
|
2020-10-26 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2023-08-08 | criteria provided, single submitter | Lynch syndrome 1 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.332 | Hereditary Nonpolyposis Colorectal Cancer | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000251.3(MSH2):c.2211-2A>G AND Carcinoma of colon | ClinVar | Detail |
| NM_000251.3(MSH2):c.2211-2A>G AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NM_000251.3(MSH2):c.2211-2A>G AND Hereditary nonpolyposis colon cancer | ClinVar | Detail |
| NM_000251.3(MSH2):c.2211-2A>G AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000251.3(MSH2):c.2211-2A>G AND Lynch syndrome 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs267608001 dbSNP
- Genome
- hg19
- Position
- chr2:47,705,409-47,705,409
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser