chr2:47416295:G>A Detail (hg38) (MSH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:47,643,434-47,643,434 View the variant detail on this assembly version. |
| hg38 | chr2:47,416,295-47,416,295 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000251.2:c.943-1G>A | |
| NM_001258281.1:c.745-1G>A | ||
| Ensemble | ENST00000713860.1:c.943-1G>A |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2022/02/13 | lynch syndrome |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2022/02/13 | corpus uteri, unspecified |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2019-06-21 | reviewed by expert panel | Lynch syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-05-01 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
|
Pathogenic
|
2021-12-10 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-07-28 | 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 | |
| 0.320 | Colorectal cancer, hereditary nonpolyposis, type 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000251.3(MSH2):c.943-1G>A AND Lynch syndrome | ClinVar | Detail |
| NM_000251.3(MSH2):c.943-1G>A AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NM_000251.3(MSH2):c.943-1G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000251.3(MSH2):c.943-1G>A AND Lynch syndrome 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs12476364 dbSNP
- Genome
- hg38
- Position
- chr2:47,416,295-47,416,295
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser