chr2:47698103:G>A Detail (hg19) (MSH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:47,698,103-47,698,103 |
| hg38 | chr2:47,470,964-47,470,964 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000251.2:c.1662-1G>A | |
| NM_001258281.1:c.1464-1G>A | ||
| Ensemble | ENST00000233146.7:c.1662-1G>A |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2020/04/20 | body of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2021/03/19 | Colorectal |
germline
|
MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2002-01-15 | no assertion criteria provided | Mismatch repair cancer syndrome 2 |
germline
|
Detail |
|
Pathogenic
|
2013-09-05 | reviewed by expert panel | Lynch syndrome |
germline
|
Detail |
|
Pathogenic
|
2019-04-01 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-09-18 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
|
Pathogenic
|
2019-07-01 | no assertion criteria provided | Lynch-like syndrome |
somatic
|
Detail |
Likely pathogenic
|
2023-08-03 | 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 | |
| 0.365 | Turcot syndrome (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000251.3(MSH2):c.1662-1G>A AND Mismatch repair cancer syndrome 2 | ClinVar | Detail |
| NM_000251.3(MSH2):c.1662-1G>A AND Lynch syndrome | ClinVar | Detail |
| NM_000251.3(MSH2):c.1662-1G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000251.3(MSH2):c.1662-1G>A AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NM_000251.3(MSH2):c.1662-1G>A AND Lynch-like syndrome | ClinVar | Detail |
| NM_000251.3(MSH2):c.1662-1G>A AND Lynch syndrome 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs267607970 dbSNP
- Genome
- hg19
- Position
- chr2:47,698,103-47,698,103
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser